Linked Data
ClinVar Variation Id:
371559
ClinVar RCV Id:
RCV000409390
dbSNP Id:
rs1057517367
gnomAD v4:
18-23882027-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23882028del , CM000680.2:g.23882028del | GRCh38 |
| NC_000018.9:g.21461992del , CM000680.1:g.21461992del | GRCh37 |
| NC_000018.8:g.19715990del | NCBI36 |
| NG_007853.2:g.197431del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.378del MANE Plus Clinical | ENSP00000269217.5:p.Cys127ValfsTer13 | |
| ENST00000313654.14:c.5205del MANE Select | ENSP00000324532.8:p.Cys1736ValfsTer13 | |
| ENST00000649721.1:c.2097del | ENSP00000497885.1:p.Cys700ValfsTer13 | |
| ENST00000269217.10:c.378del | ENSP00000269217.5:p.Cys127ValfsTer13 | |
| ENST00000313654.13:c.5205del | ENSP00000324532.8:p.Cys1736ValfsTer13 | |
| ENST00000399516.7:c.5205del | ENSP00000382432.2:p.Cys1736ValfsTer13 | |
| ENST00000587184.5:c.378del | ENSP00000466557.1:p.Cys127ValfsTer13 | |
| NM_000227.4:c.378del | NP_000218.3:p.Cys127ValfsTer13 | |
| NM_001127717.2:c.5205del | NP_001121189.2:p.Cys1736ValfsTer13 | |
| NM_001127718.2:c.378del | NP_001121190.2:p.Cys127ValfsTer13 | |
| NM_198129.2:c.5205del | NP_937762.2:p.Cys1736ValfsTer13 | |
| XM_011525978.1:c.5232del | XP_011524280.1:p.Cys1745ValfsTer13 | |
| XM_011525979.1:c.5223del | XP_011524281.1:p.Cys1742ValfsTer13 | |
| XM_011525980.1:c.5214del | XP_011524282.1:p.Cys1739ValfsTer13 | |
| XM_011525981.1:c.5100del | XP_011524283.1:p.Cys1701ValfsTer13 | |
| XM_011525982.1:c.5232del | XP_011524284.1:p.Cys1745ValfsTer13 | |
| XM_011525978.2:c.5232del | XP_011524280.1:p.Cys1745ValfsTer13 | |
| XM_011525979.2:c.5223del | XP_011524281.1:p.Cys1742ValfsTer13 | |
| XM_011525980.2:c.5214del | XP_011524282.1:p.Cys1739ValfsTer13 | |
| XM_011525981.2:c.5100del | XP_011524283.1:p.Cys1701ValfsTer13 | |
| XM_011525982.2:c.5232del | XP_011524284.1:p.Cys1745ValfsTer13 | |
| XM_017025743.1:c.3084del | XP_016881232.1:p.Cys1029ValfsTer13 | |
| XM_017025744.1:c.774del | XP_016881233.1:p.Cys259ValfsTer13 | |
| XR_001753199.1:n.5473del | ||
| NM_000227.5:c.378del | NP_000218.3:p.Cys127ValfsTer13 | |
| NM_001127717.3:c.5205del | NP_001121189.2:p.Cys1736ValfsTer13 | |
| NM_001127718.3:c.378del | NP_001121190.2:p.Cys127ValfsTer13 | |
| NM_198129.3:c.5205del | NP_937762.2:p.Cys1736ValfsTer13 | |
| NM_000227.6:c.378del MANE Plus Clinical | NP_000218.3:p.Cys127ValfsTer13 | |
| NM_001127717.4:c.5205del | NP_001121189.2:p.Cys1736ValfsTer13 | |
| NM_001127718.4:c.378del | NP_001121190.2:p.Cys127ValfsTer13 | |
| NM_198129.4:c.5205del MANE Select | NP_937762.2:p.Cys1736ValfsTer13 |