Linked Data
ClinVar Variation Id:
371085
dbSNP Id:
rs1057516994
gnomAD v2:
1-100382026-T-TAA
gnomAD v4:
1-99916470-T-TAA
MyVariant Identifiers:
chr1:g.100382028_100382029dupAA (hg19)
chr1:g.100382026_100382027insAA (hg19)
chr1:g.99916472_99916473dupAA (hg38)
chr1:g.99916470_99916471insAA (hg38)
PubMed:
PMID:11977176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99916472_99916473dup , CM000663.2:g.99916472_99916473dup | GRCh38 |
| NC_000001.10:g.100382028_100382029dup , CM000663.1:g.100382028_100382029dup | GRCh37 |
| NC_000001.9:g.100154616_100154617dup | NCBI36 |
| NG_012865.1:g.71389_71390dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.4322_4323dup MANE Select | ENSP00000355106.3:p.Gly1442LysfsTer28 | |
| ENST00000637337.1:n.4533_4534dup | ||
| ENST00000294724.8:c.4322_4323dup | ENSP00000294724.4:p.Gly1442LysfsTer28 | |
| ENST00000361302.7:c.4274_4275dup | ENSP00000354971.3:p.Gly1426LysfsTer28 | |
| ENST00000361522.4:c.4271_4272dup | ENSP00000354635.4:p.Gly1425LysfsTer28 | |
| ENST00000361915.7:c.4322_4323dup | ENSP00000355106.3:p.Gly1442LysfsTer28 | |
| ENST00000370161.6:c.4274_4275dup | ENSP00000359180.2:p.Gly1426LysfsTer28 | |
| ENST00000370163.7:c.4322_4323dup | ENSP00000359182.3:p.Gly1442LysfsTer28 | |
| ENST00000370165.7:c.4322_4323dup | ENSP00000359184.3:p.Gly1442LysfsTer28 | |
| NM_000028.2:c.4322_4323dup | NP_000019.2:p.Gly1442LysfsTer28 | |
| NM_000642.2:c.4322_4323dup | NP_000633.2:p.Gly1442LysfsTer28 | |
| NM_000643.2:c.4322_4323dup | NP_000634.2:p.Gly1442LysfsTer28 | |
| NM_000644.2:c.4322_4323dup | NP_000635.2:p.Gly1442LysfsTer28 | |
| NM_000645.2:c.4271_4272dup | NP_000636.2:p.Gly1425LysfsTer28 | |
| NM_000646.2:c.4274_4275dup | NP_000637.2:p.Gly1426LysfsTer28 | |
| XM_005270557.1:c.4322_4323dup | XP_005270614.1:p.Gly1442LysfsTer28 | |
| XR_947626.1:n.1318-3255_1318-3254dup | ||
| XR_947627.1:n.1207-3255_1207-3254dup | ||
| XR_947628.1:n.1312-3255_1312-3254dup | ||
| XR_947630.1:n.1250-3255_1250-3254dup | ||
| XR_947632.1:n.1136-3255_1136-3254dup | ||
| XR_947633.1:n.1247-3255_1247-3254dup | ||
| XR_947634.1:n.661-3255_661-3254dup | ||
| XR_947635.1:n.729-3255_729-3254dup | ||
| XM_005270557.2:c.4322_4323dup | XP_005270614.1:p.Gly1442LysfsTer28 | |
| XM_017000501.2:c.2582_2583dup | XP_016855990.1:p.Gly862LysfsTer28 | |
| NM_000642.3:c.4322_4323dup MANE Select | NP_000633.2:p.Gly1442LysfsTer28 |