Linked Data
ClinVar Variation Id:
367967
ClinVar RCV Id:
RCV000310808
dbSNP Id:
rs200158505
gnomAD v2:
X-13730677-A-AT
gnomAD v3:
X-13712558-A-AT
gnomAD v4:
X-13712558-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13712564dup , CM000685.2:g.13712564dup | GRCh38 |
| NC_000023.10:g.13730683dup , CM000685.1:g.13730683dup | GRCh37 |
| NC_000023.9:g.13640604dup | NCBI36 |
| NG_011555.1:g.27065dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683569.1:c.*1848dup | ENSP00000508155.1:n.*1848dup | |
| ENST00000683983.1:c.*1848dup | ENSP00000507474.1:n.*1848dup | |
| ENST00000380579.6:c.*1848dup MANE Select | ENSP00000369953.1:n.*1848dup | |
| ENST00000359680.9:c.*1848dup | ENSP00000352708.5:n.*1848dup | |
| ENST00000380579.5:c.*1848dup | ENSP00000369953.1:n.*1848dup | |
| NM_001011658.3:c.*1848dup | NP_001011658.1:n.*1848dup | |
| NM_001128835.2:c.*1848dup | NP_001122307.2:n.*1848dup | |
| NM_014563.5:c.*1848dup | NP_055378.1:n.*1848dup | |
| XM_011545565.1:c.*1848dup | XP_011543867.1:n.*1848dup | |
| XM_011545566.1:c.*1848dup | XP_011543868.1:n.*1848dup | |
| XM_011545566.2:c.*1848dup | XP_011543868.1:n.*1848dup | |
| NM_001011658.4:c.*1848dup MANE Select | NP_001011658.1:n.*1848dup | |
| NM_001128835.3:c.*1848dup | NP_001122307.2:n.*1848dup | |
| NM_014563.6:c.*1848dup | NP_055378.1:n.*1848dup |