Linked Data
ClinVar Variation Id:
872231
ClinVar RCV Id:
RCV001092583
dbSNP Id:
rs769617510
ExAC:
1:17312564 T / TC
gnomAD v2:
1-17312564-T-TC
gnomAD v3:
1-16986069-T-TC
gnomAD v4:
1-16986069-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986073dup , CM000663.2:g.16986073dup | GRCh38 |
| NC_000001.10:g.17312568dup , CM000663.1:g.17312568dup | GRCh37 |
| NC_000001.9:g.17185155dup | NCBI36 |
| NG_009054.1:g.30859dup | |
| NG_029688.1:g.517dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.*151dup MANE Select | ENSP00000327214.8:n.*151dup | |
| ENST00000326735.12:c.*151dup | ENSP00000327214.8:n.*151dup | |
| ENST00000341676.9:c.3392dup | ENSP00000341115.5:p.Ser1132LysfsTer3 | |
| ENST00000452699.5:c.*151dup | ENSP00000413307.1:n.*151dup | |
| ENST00000466561.1:n.1740dup | ||
| ENST00000502418.1:c.1112dup | ENSP00000423065.1:p.Ser372LysfsTer3 | |
| NM_001141973.2:c.*151dup | NP_001135445.1:n.*151dup | |
| NM_001141974.2:c.3392dup | NP_001135446.1:p.Ser1132LysfsTer3 | |
| NM_022089.3:c.*151dup | NP_071372.1:n.*151dup | |
| XM_005245809.1:c.3524dup | XP_005245866.1:p.Ser1176LysfsTer3 | |
| XM_005245810.1:c.3521dup | XP_005245867.1:p.Ser1175LysfsTer3 | |
| XM_005245811.1:c.3509dup | XP_005245868.1:p.Ser1171LysfsTer3 | |
| XM_005245812.1:c.3497dup | XP_005245869.1:p.Ser1167LysfsTer3 | |
| XM_005245813.1:c.3464dup | XP_005245870.1:p.Ser1156LysfsTer3 | |
| XM_005245815.1:c.3407dup | XP_005245872.1:p.Ser1137LysfsTer3 | |
| XM_006710512.1:c.3506dup | XP_006710575.1:p.Ser1170LysfsTer3 | |
| XM_006710513.1:c.3482dup | XP_006710576.1:p.Ser1162LysfsTer3 | |
| XM_011541128.1:c.3509dup | XP_011539430.1:p.Ser1171LysfsTer3 | |
| XM_011541129.1:c.3317dup | XP_011539431.1:p.Ser1107LysfsTer3 | |
| XM_017000844.1:c.*151dup | XP_016856333.1:n.*151dup | |
| XM_017000845.1:c.*151dup | XP_016856334.1:n.*151dup | |
| XM_017000846.1:c.*151dup | XP_016856335.1:n.*151dup | |
| XM_017000847.1:c.*151dup | XP_016856336.1:n.*151dup | |
| XM_017000848.1:c.*151dup | XP_016856337.1:n.*151dup | |
| XM_017000849.1:c.*151dup | XP_016856338.1:n.*151dup | |
| XM_017000850.1:c.*151dup | XP_016856339.1:n.*151dup | |
| NM_022089.4:c.*151dup MANE Select | NP_071372.1:n.*151dup | |
| NM_001141973.3:c.*151dup | NP_001135445.1:n.*151dup | |
| NM_001141974.3:c.3392dup | NP_001135446.1:p.Ser1132LysfsTer3 |