Linked Data
ClinVar Variation Id:
39857
ClinVar RCV Id:
RCV000033084
dbSNP Id:
rs1057519614
PubMed:
PMID:23143600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2700879del , CM000680.2:g.2700879del | GRCh38 |
| NC_000018.9:g.2700877del , CM000680.1:g.2700877del | GRCh37 |
| NC_000018.8:g.2690877del | NCBI36 |
| NG_031972.1:g.49992del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684915.1:n.1765del | ||
| ENST00000688342.1:c.1608del | ENSP00000508422.1:p.Asp537IlefsTer10 | |
| ENST00000693213.1:n.886del | ||
| ENST00000320876.11:c.1608del MANE Select | ENSP00000326603.7:p.Asp537IlefsTer10 | |
| ENST00000320876.10:c.1608del | ENSP00000326603.6:p.Asp537IlefsTer10 | |
| ENST00000577880.5:c.21del | ENSP00000463049.1:p.Asp8IlefsTer10 | |
| ENST00000585229.1:c.103del | ||
| NM_015295.2:c.1608del | NP_056110.2:p.Asp537IlefsTer10 | |
| XM_011525642.1:c.1608del | XP_011523944.1:p.Asp537IlefsTer10 | |
| XM_011525643.1:c.1608del | XP_011523945.1:p.Asp537IlefsTer10 | |
| XM_011525644.1:c.1224del | XP_011523946.1:p.Asp409IlefsTer10 | |
| XM_011525645.1:c.1044del | XP_011523947.1:p.Asp349IlefsTer10 | |
| XM_011525646.1:c.1608del | XP_011523948.1:p.Asp537IlefsTer10 | |
| XM_011525647.1:c.1608del | XP_011523949.1:p.Asp537IlefsTer10 | |
| XR_430039.1:n.1797del | ||
| XR_935054.1:n.1797del | ||
| XR_935055.1:n.1797del | ||
| XM_011525643.2:c.1608del | XP_011523945.1:p.Asp537IlefsTer10 | |
| XM_017025684.1:c.1044del | XP_016881173.1:p.Asp349IlefsTer10 | |
| XR_001753172.1:n.1797del | ||
| XR_001753173.1:n.1797del | ||
| XR_001753174.1:n.1797del | ||
| XR_001753175.1:n.1797del | ||
| XR_001753176.1:n.1797del | ||
| XR_001753177.1:n.1797del | ||
| XR_001753178.1:n.1797del | ||
| XR_001753179.1:n.1797del | ||
| XR_935055.2:n.1797del | ||
| NM_015295.3:c.1608del MANE Select | NP_056110.2:p.Asp537IlefsTer10 |