HGVS genomic codes
Genomic codes in the Analysis Results table use the Human Genome Variation Society (HGVS) sequence variant nomenclature.
HGVS c. notations for intronic, upstream, and downstream variants in genes are shown on the Functional tab in the list of variants in the Analysis Results screen. HGVS c. notations are not shown for intergenic variants.
|
|
CHR |
POS |
REF |
ALT |
GT |
Genomic |
Coding |
Protein |
|---|---|---|---|---|---|---|---|---|
|
Homozygous SNP |
3 |
124535434 |
G |
A |
c.1531G>A |
p.Ala511Thr |
||
|
Heterozygous SNP |
4 |
90545103 |
A |
T |
0/1 |
c.1638A>T |
p.Lys546Asn |
|
|
Insertion |
4 |
Insertion of bases “AAT” between the positions 61310513 and 613105134 |
G |
GAAT |
0/1 |
c.1663_1664insAAT |
NA |
|
|
Deletion |
17 |
Deletion of bases “GGT” in positions 61917157, 61917158,61917159 |
AGGT |
A |
0/1 |
c.737_739delGGT |
NA |
|
|
MNV |
Y |
Replacing bases “CC” in positions 50367679 and 50367680 with bases “TT” |
CC |
TT |
0/1 |
chr7:50367679_50367680delCCinsTT;[=] |
c.235_236delCCinsTT |
p.Pro79Leu |
|
Homozygous reference call |
22 |
50833853 |
A |
. |
0/0 |
chr11:50833853A |
c.= |
p.Tyr505Tyr |
|
No call |
5 |
38335801 |
G |
. |
./. |
chr16:38335801G>? |
NA |
NA |
For more information about the HGVS nomenclature, go to the Human Genome Variation Society website at https://varnomen.hgvs.org/.