Linked Data
ClinVar Variation Id:
2885689
ClinVar RCV Id:
RCV003717377
dbSNP Id:
rs1258647750
gnomAD v2:
6-42928693-A-AC
gnomAD v3:
6-42960955-A-AC
gnomAD v4:
6-42960955-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42960956dup , CM000668.2:g.42960956dup | GRCh38 |
| NC_000006.11:g.42928694dup , CM000668.1:g.42928694dup | GRCh37 |
| NC_000006.10:g.43036672dup | NCBI36 |
| NG_008396.1:g.5195dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372808.4:c.189dup MANE Select | ENSP00000361894.3:p.Val64ArgfsTer26 | |
| ENST00000372808.3:c.189dup | ENSP00000361894.3:p.Val64ArgfsTer26 | |
| NM_018960.4:c.189dup | NP_061833.1:p.Val64ArgfsTer26 | |
| XM_011514493.1:c.-13-1256dup | XP_011512795.1:n.-13-1256dup | |
| XM_011514494.1:c.-13-1256dup | XP_011512796.1:n.-13-1256dup | |
| NM_001318856.1:c.9-1256dup | NP_001305785.1:n.9-1256dup | |
| NM_001318857.1:c.152-1806dup | NP_001305786.1:n.152-1806dup | |
| NM_001318858.1:c.152-1806dup | NP_001305787.1:n.152-1806dup | |
| NM_001318865.1:c.189dup | NP_001305794.1:p.Val64ArgfsTer26 | |
| NM_018960.5:c.189dup | NP_061833.1:p.Val64ArgfsTer26 | |
| NR_134890.1:n.690-1806dup | ||
| NR_134891.1:n.593-1806dup | ||
| NR_134892.1:n.593-1256dup | ||
| NR_134899.1:n.203dup | ||
| NM_018960.6:c.189dup MANE Select | NP_061833.1:p.Val64ArgfsTer26 | |
| NM_001318856.2:c.9-1256dup | NP_001305785.1:n.9-1256dup | |
| NM_001318857.2:c.152-1806dup | NP_001305786.1:n.152-1806dup | |
| NM_001318858.2:c.152-1806dup | NP_001305787.1:n.152-1806dup | |
| NM_001318865.2:c.189dup | NP_001305794.1:p.Val64ArgfsTer26 | |
| NR_134890.2:n.340-1806dup | ||
| NR_134891.2:n.243-1806dup | ||
| NR_134892.2:n.243-1256dup | ||
| NR_134899.2:n.203dup |