Linked Data
ClinVar Variation Id:
39709
ClinVar RCV Id:
RCV002514138
dbSNP Id:
rs398122827
ExAC:
3:53707829 T / TGGG
gnomAD v2:
3-53707829-T-TGGG
gnomAD v4:
3-53673802-T-TGGG
MyVariant Identifiers:
chr3:g.53707831_53707832insGGG (hg19)
chr3:g.53707829_53707830insGGG (hg19)
chr3:g.53673804_53673805insGGG (hg38)
chr3:g.53673802_53673803insGGG (hg38)
PubMed:
PMID:21131953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53673804_53673805insGGG , CM000665.2:g.53673804_53673805insGGG | GRCh38 |
| NC_000003.11:g.53707831_53707832insGGG , CM000665.1:g.53707831_53707832insGGG | GRCh37 |
| NC_000003.10:g.53682871_53682872insGGG | NCBI36 |
| NG_032999.1:g.183756_183757insGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481478.2:c.1220+678_1220+679insGGG | ENSP00000418014.2:n.1220+678_1220+679insG... | |
| ENST00000636627.2:c.1208_1209insGGG | ENSP00000490889.2:p.Gly403_Val404insGly | |
| ENST00000288139.11:c.1208_1209insGGG MANE Plus Clinical | ENSP00000288139.3:p.Gly403_Val404insGly | |
| ENST00000350061.11:c.1220+678_1220+679insGGG MANE Select | ENSP00000288133.5:n.1220+678_1220+679insG... | |
| ENST00000422281.7:c.1220+678_1220+679insGGG | ENSP00000409174.2:n.1220+678_1220+679insG... | |
| ENST00000498251.2:n.66+678_66+679insGGG | ||
| ENST00000636570.1:c.1208_1209insGGG | ENSP00000490183.1:p.Gly403_Val404insGly | |
| ENST00000636627.1:c.448_449insGGG | ||
| ENST00000636938.1:c.1208_1209insGGG | ENSP00000490039.1:p.Gly403_Val404insGly | |
| ENST00000637424.1:c.1280_1281insGGG | ENSP00000489769.1:p.Gly427_Val428insGly | |
| ENST00000640483.1:c.1181_1182insGGG | ENSP00000491921.1:p.Gly394_Val395insGly | |
| ENST00000288139.8:c.1208_1209insGGG | ENSP00000288139.3:p.Gly403_Val404insGly | |
| ENST00000350061.9:c.1220+678_1220+679insGGG | ENSP00000288133.5:n.1220+678_1220+679insG... | |
| ENST00000422281.6:c.1220+678_1220+679insGGG | ENSP00000409174.2:n.1220+678_1220+679insG... | |
| ENST00000464429.1:n.250_251insGGG | ||
| ENST00000481085.5:c.265_266insGGG | ||
| ENST00000481478.1:c.239+678_239+679insGGG | ENSP00000418014.1:n.239+678_239+679insGGG... | |
| ENST00000498251.1:n.66+678_66+679insGGG | ||
| NM_000720.3:c.1208_1209insGGG | NP_000711.1:p.Gly403_Val404insGly | |
| NM_001128839.2:c.1220+678_1220+679insGGG | NP_001122311.1:n.1220+678_1220+679insGGG | |
| NM_001128840.2:c.1220+678_1220+679insGGG | NP_001122312.1:n.1220+678_1220+679insGGG | |
| XM_005265448.2:c.1208_1209insGGG | XP_005265505.1:p.Gly403_Val404insGly | |
| XM_011534094.1:c.1331+678_1331+679insGGG | XP_011532396.1:n.1331+678_1331+679insGGG | |
| XM_011534095.1:c.1208_1209insGGG | XP_011532397.1:p.Gly403_Val404insGly | |
| XM_011534096.1:c.1319_1320insGGG | XP_011532398.1:p.Gly440_Val441insGly | |
| XM_011534097.1:c.782_783insGGG | XP_011532399.1:p.Gly261_Val262insGly | |
| XM_011534098.1:c.782_783insGGG | XP_011532400.1:p.Gly261_Val262insGly | |
| XM_011534099.1:c.407_408insGGG | XP_011532401.1:p.Gly136_Val137insGly | |
| XM_011534100.1:c.1319_1320insGGG | XP_011532402.1:p.Gly440_Val441insGly | |
| XM_005265448.3:c.1208_1209insGGG | XP_005265505.1:p.Gly403_Val404insGly | |
| XM_011534094.2:c.1331+678_1331+679insGGG | XP_011532396.1:n.1331+678_1331+679insGGG | |
| XM_011534096.2:c.1319_1320insGGG | XP_011532398.1:p.Gly440_Val441insGly | |
| XM_011534097.2:c.782_783insGGG | XP_011532399.1:p.Gly261_Val262insGly | |
| XM_011534099.2:c.407_408insGGG | XP_011532401.1:p.Gly136_Val137insGly | |
| XM_011534100.2:c.1319_1320insGGG | XP_011532402.1:p.Gly440_Val441insGly | |
| XM_017007137.1:c.1319_1320insGGG | XP_016862626.1:p.Gly440_Val441insGly | |
| XM_017007138.1:c.1319_1320insGGG | XP_016862627.1:p.Gly440_Val441insGly | |
| XM_017007139.1:c.1319_1320insGGG | XP_016862628.1:p.Gly440_Val441insGly | |
| XM_017007140.1:c.1319_1320insGGG | XP_016862629.1:p.Gly440_Val441insGly | |
| XM_017007141.1:c.1331+678_1331+679insGGG | XP_016862630.1:n.1331+678_1331+679insGGG | |
| XM_017007142.1:c.1319_1320insGGG | XP_016862631.1:p.Gly440_Val441insGly | |
| XM_017007143.1:c.1319_1320insGGG | XP_016862632.1:p.Gly440_Val441insGly | |
| XM_017007144.1:c.1331+678_1331+679insGGG | XP_016862633.1:n.1331+678_1331+679insGGG | |
| XM_017007145.1:c.1319_1320insGGG | XP_016862634.1:p.Gly440_Val441insGly | |
| NM_001128840.3:c.1220+678_1220+679insGGG MANE Select | NP_001122312.1:n.1220+678_1220+679insGGG | |
| NM_000720.4:c.1208_1209insGGG MANE Plus Clinical | NP_000711.1:p.Gly403_Val404insGly | |
| NM_001128839.3:c.1220+678_1220+679insGGG | NP_001122311.1:n.1220+678_1220+679insGGG |