Linked Data
ClinVar Variation Id:
548800
dbSNP Id:
rs756681683
ExAC:
10:89725230 A / AT
gnomAD v2:
10-89725230-A-AT
gnomAD v3:
10-87965473-A-AT
gnomAD v4:
10-87965473-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965482dup , CM000672.2:g.87965482dup | GRCh38 |
| NC_000010.10:g.89725239dup , CM000672.1:g.89725239dup | GRCh37 |
| NC_000010.9:g.89715219dup | NCBI36 |
| NG_007466.2:g.107044dup , LRG_311:g.107044dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.*10dup | ENSP00000514759.2:n.*10dup | |
| ENST00000710265.1:c.*251dup | ENSP00000518161.1:n.*251dup | |
| ENST00000688158.2:n.1957dup | ||
| ENST00000688922.2:c.*1052dup | ENSP00000508742.2:n.*1052dup | |
| ENST00000700021.1:c.*10dup | ENSP00000514757.1:n.*10dup | |
| ENST00000700022.1:c.*561dup | ENSP00000514758.1:n.*561dup | |
| ENST00000700023.1:n.2380dup | ||
| ENST00000700024.1:n.2614dup | ||
| ENST00000706954.1:c.*10dup | ENSP00000516674.1:n.*10dup | |
| ENST00000706955.1:c.*1257dup | ENSP00000516675.1:n.*1257dup | |
| ENST00000686459.1:c.*808dup | ENSP00000508909.1:n.*808dup | |
| ENST00000688158.1:c.*1333dup | ENSP00000509254.1:n.*1333dup | |
| ENST00000688308.1:c.*10dup | ENSP00000508752.1:n.*10dup | |
| ENST00000688922.1:c.1143dup | ||
| ENST00000693560.1:c.*10dup | ENSP00000509861.1:n.*10dup | |
| ENST00000371953.8:c.*10dup MANE Select | ENSP00000361021.3:n.*10dup | |
| ENST00000371953.7:c.*10dup | ENSP00000361021.3:n.*10dup | |
| NM_000314.5:c.*10dup | NP_000305.3:n.*10dup | |
| NM_000314.6:c.*10dup | NP_000305.3:n.*10dup | |
| NM_001304717.2:c.*10dup | NP_001291646.2:n.*10dup | |
| NM_001304718.1:c.*10dup | NP_001291647.1:n.*10dup | |
| XM_006717926.2:c.*10dup | XP_006717989.1:n.*10dup | |
| XM_011539982.1:c.*10dup | XP_011538284.1:n.*10dup | |
| XR_945791.1:n.1792dup | ||
| NM_000314.7:c.*10dup | NP_000305.3:n.*10dup | |
| NM_001304717.5:c.*10dup | NP_001291646.4:n.*10dup | |
| NM_001304718.2:c.*10dup | NP_001291647.1:n.*10dup | |
| NM_000314.8:c.*10dup MANE Select | NP_000305.3:n.*10dup |