Linked Data
ClinVar Variation Id:
17145
dbSNP Id:
rs137853213
MyVariant Identifiers:
chr1:g.40773149_40773150delinsCA (hg19)
chr1:g.40307477_40307478delinsCA (hg38)
PubMed:
PMID:10411504
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40307477_40307478delinsCA , CM000663.2:g.40307477_40307478delinsCA | GRCh38 |
| NC_000001.10:g.40773149_40773150delinsCA , CM000663.1:g.40773149_40773150delinsCA | GRCh37 |
| NC_000001.9:g.40545736_40545737delinsCA | NCBI36 |
| NG_008031.1:g.14790_14791delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372748.8:c.976_977delinsTG MANE Select | ENSP00000361834.3:p.Gln326Trp | |
| ENST00000372748.7:c.976_977delinsTG | ENSP00000361834.3:p.Gln326Trp | |
| ENST00000482722.5:n.1279_1280delinsTG | ||
| NM_001852.3:c.976_977delinsTG | NP_001843.1:p.Gln326Trp | |
| XM_006710365.2:c.976_977delinsTG | XP_006710428.1:p.Gln326Trp | |
| XM_011540714.1:c.988_989delinsTG | XP_011539016.1:p.Gln330Trp | |
| XM_011540715.1:c.706_707delinsTG | XP_011539017.1:p.Gln236Trp | |
| XM_011540716.1:c.706_707delinsTG | XP_011539018.1:p.Gln236Trp | |
| XM_011540717.1:c.433_434delinsTG | XP_011539019.1:p.Gln145Trp | |
| XM_011540718.1:c.988_989delinsTG | XP_011539020.1:p.Gln330Trp | |
| XM_006710365.3:c.976_977delinsTG | XP_006710428.1:p.Gln326Trp | |
| XM_011540715.2:c.706_707delinsTG | XP_011539017.1:p.Gln236Trp | |
| XM_011540716.2:c.706_707delinsTG | XP_011539018.1:p.Gln236Trp | |
| XM_011540717.2:c.433_434delinsTG | XP_011539019.1:p.Gln145Trp | |
| XM_017000332.1:c.988_989delinsTG | XP_016855821.1:p.Gln330Trp | |
| XM_017000333.1:c.694_695delinsTG | XP_016855822.1:p.Gln232Trp | |
| NM_001852.4:c.976_977delinsTG MANE Select | NP_001843.1:p.Gln326Trp |