Linked Data
ClinVar Variation Id:
141654
dbSNP Id:
rs587781912
ExAC:
10:89624275 CAA / C
gnomAD v2:
10-89624275-CAA-C
gnomAD v4:
10-87864518-CAA-C
PubMed:
PMID:20223021
ERepo:
CA000167/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87864519_87864520del , CM000672.2:g.87864519_87864520del | GRCh38 |
| NC_000010.10:g.89624276_89624277del , CM000672.1:g.89624276_89624277del | GRCh37 |
| NC_000010.9:g.89614256_89614257del | NCBI36 |
| NG_007466.2:g.6081_6082del , LRG_311:g.6081_6082del | |
| NG_033079.1:g.3918_3919del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.50_51del | ENSP00000514759.2:p.Gln17ArgfsTer26 | |
| ENST00000710265.1:c.50_51del | ENSP00000518161.1:p.Gln17ArgfsTer26 | |
| ENST00000472832.3:c.50_51del | ENSP00000483066.2:p.Gln17ArgfsTer26 | |
| ENST00000688922.2:c.50_51del | ENSP00000508742.2:p.Gln17ArgfsTer26 | |
| ENST00000700021.1:c.50_51del | ENSP00000514757.1:p.Gln17ArgfsTer26 | |
| ENST00000700022.1:c.50_51del | ENSP00000514758.1:p.Gln17ArgfsTer26 | |
| ENST00000706954.1:c.50_51del | ENSP00000516674.1:p.Gln17ArgfsTer26 | |
| ENST00000706955.1:c.50_51del | ENSP00000516675.1:p.Gln17ArgfsTer13 | |
| ENST00000686459.1:c.50_51del | ENSP00000508909.1:p.Gln17ArgfsTer26 | |
| ENST00000688158.1:c.50_51del | ENSP00000509254.1:p.Gln17ArgfsTer18 | |
| ENST00000688308.1:c.50_51del | ENSP00000508752.1:p.Gln17ArgfsTer26 | |
| ENST00000693560.1:c.569_570del | ENSP00000509861.1:p.Gln190ArgfsTer26 | |
| ENST00000371953.8:c.50_51del MANE Select | ENSP00000361021.3:p.Gln17ArgfsTer26 | |
| ENST00000371953.7:c.50_51del | ENSP00000361021.3:p.Gln17ArgfsTer26 | |
| ENST00000462694.1:n.52_53del | ||
| ENST00000487939.1:n.71_72del | ||
| ENST00000610634.1:c.-53_-52del | ENSP00000477517.1:n.-53_-52del | |
| ENST00000618586.1:n.19_20del | ||
| NM_000314.5:c.50_51del | NP_000305.3:p.Gln17ArgfsTer26 | |
| NM_000314.6:c.50_51del | NP_000305.3:p.Gln17ArgfsTer26 | |
| NM_001304717.2:c.569_570del | NP_001291646.2:p.Gln190ArgfsTer26 | |
| NM_001304718.1:c.-656_-655del | NP_001291647.1:n.-656_-655del | |
| XM_006717926.2:c.50_51del | XP_006717989.1:p.Gln17ArgfsTer26 | |
| XM_011539981.1:c.50_51del | XP_011538283.1:p.Gln17ArgfsTer26 | |
| XR_945789.1:n.762_763del | ||
| XR_945790.1:n.762_763del | ||
| XR_945791.1:n.762_763del | ||
| NM_000314.7:c.50_51del | NP_000305.3:p.Gln17ArgfsTer26 | |
| NM_001304717.5:c.569_570del | NP_001291646.4:p.Gln190ArgfsTer26 | |
| NM_001304718.2:c.-656_-655del | NP_001291647.1:n.-656_-655del | |
| NM_000314.8:c.50_51del MANE Select | NP_000305.3:p.Gln17ArgfsTer26 |