Linked Data
ClinVar Variation Id:
30833
ClinVar RCV Id:
RCV000023818
dbSNP Id:
rs762033589
ExAC:
1:17323607 G / GTC
gnomAD v2:
1-17323607-G-GTC
gnomAD v4:
1-16997112-G-GTC
MyVariant Identifiers:
chr1:g.17323608_17323609dupTC (hg19)
chr1:g.17323607_17323608insTC (hg19)
chr1:g.16997113_16997114dupTC (hg38)
chr1:g.16997112_16997113insTC (hg38)
PubMed:
PMID:20310007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16997116_16997117dup , CM000663.2:g.16997116_16997117dup | GRCh38 |
| NC_000001.10:g.17323611_17323612dup , CM000663.1:g.17323611_17323612dup | GRCh37 |
| NC_000001.9:g.17196198_17196199dup | NCBI36 |
| NG_009054.1:g.19815_19816dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326735.13:c.1101_1102dup MANE Select | ENSP00000327214.8:p.Thr368ArgfsTer29 | |
| ENST00000326735.12:c.1101_1102dup | ENSP00000327214.8:p.Thr368ArgfsTer29 | |
| ENST00000341676.9:c.1086_1087dup | ENSP00000341115.5:p.Thr363ArgfsTer29 | |
| ENST00000452699.5:c.1086_1087dup | ENSP00000413307.1:p.Thr363ArgfsTer29 | |
| ENST00000463860.5:n.709_710dup | ||
| ENST00000502860.1:n.240_241dup | ||
| ENST00000506174.5:c.261_262dup | ENSP00000424393.1:p.Thr88ArgfsTer29 | |
| ENST00000617114.4:c.240_241dup | ENSP00000478781.1:p.Thr81ArgfsTer29 | |
| NM_001141973.2:c.1086_1087dup | NP_001135445.1:p.Thr363ArgfsTer29 | |
| NM_001141974.2:c.1086_1087dup | NP_001135446.1:p.Thr363ArgfsTer29 | |
| NM_022089.3:c.1101_1102dup | NP_071372.1:p.Thr368ArgfsTer29 | |
| XM_005245809.1:c.1101_1102dup | XP_005245866.1:p.Thr368ArgfsTer29 | |
| XM_005245810.1:c.1098_1099dup | XP_005245867.1:p.Thr367ArgfsTer29 | |
| XM_005245811.1:c.1086_1087dup | XP_005245868.1:p.Thr363ArgfsTer29 | |
| XM_005245812.1:c.1074_1075dup | XP_005245869.1:p.Thr359ArgfsTer29 | |
| XM_005245813.1:c.1101_1102dup | XP_005245870.1:p.Thr368ArgfsTer29 | |
| XM_005245815.1:c.1101_1102dup | XP_005245872.1:p.Thr368ArgfsTer29 | |
| XM_006710512.1:c.1083_1084dup | XP_006710575.1:p.Thr362ArgfsTer29 | |
| XM_006710513.1:c.1059_1060dup | XP_006710576.1:p.Thr354ArgfsTer29 | |
| XM_011541128.1:c.1101_1102dup | XP_011539430.1:p.Thr368ArgfsTer29 | |
| XM_011541129.1:c.1101_1102dup | XP_011539431.1:p.Thr368ArgfsTer29 | |
| XM_017000844.1:c.1101_1102dup | XP_016856333.1:p.Thr368ArgfsTer29 | |
| XM_017000845.1:c.1083_1084dup | XP_016856334.1:p.Thr362ArgfsTer29 | |
| XM_017000846.1:c.1059_1060dup | XP_016856335.1:p.Thr354ArgfsTer29 | |
| XM_017000847.1:c.1071_1072dup | XP_016856336.1:p.Thr358ArgfsTer29 | |
| XM_017000848.1:c.1101_1102dup | XP_016856337.1:p.Thr368ArgfsTer29 | |
| XM_017000849.1:c.1086_1087dup | XP_016856338.1:p.Thr363ArgfsTer29 | |
| XM_017000850.1:c.1101_1102dup | XP_016856339.1:p.Thr368ArgfsTer29 | |
| NM_022089.4:c.1101_1102dup MANE Select | NP_071372.1:p.Thr368ArgfsTer29 | |
| NM_001141973.3:c.1086_1087dup | NP_001135445.1:p.Thr363ArgfsTer29 | |
| NM_001141974.3:c.1086_1087dup | NP_001135446.1:p.Thr363ArgfsTer29 |