Linked Data
ClinVar Variation Id:
55610
ClinVar RCV Id:
RCV000112690
dbSNP Id:
rs80357839
PubMed:
PMID:7493024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045760del , CM000679.2:g.43045760del | GRCh38 |
| NC_000017.10:g.41197777del , CM000679.1:g.41197777del | GRCh37 |
| NC_000017.9:g.38451303del | NCBI36 |
| NG_005905.2:g.172226del , LRG_292:g.172226del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5509del | ENSP00000417241.2:p.Val1837CysfsTer5 | |
| ENST00000470026.6:c.5512del | ENSP00000419274.2:p.Val1838CysfsTer5 | |
| ENST00000473961.6:c.5386del | ENSP00000420201.2:p.Val1796CysfsTer5 | |
| ENST00000476777.6:c.5506del | ENSP00000417554.2:p.Val1836CysfsTer5 | |
| ENST00000477152.6:c.5434del | ENSP00000419988.2:p.Val1812CysfsTer5 | |
| ENST00000478531.6:c.2200del | ENSP00000420412.2:p.Val734CysfsTer5 | |
| ENST00000489037.2:c.5434del | ENSP00000420781.2:p.Val1812CysfsTer5 | |
| ENST00000493919.6:c.2062del | ENSP00000418819.2:p.Val688CysfsTer5 | |
| ENST00000494123.6:c.5512del | ENSP00000419103.2:p.Val1838CysfsTer5 | |
| ENST00000497488.2:c.4624del | ENSP00000418986.2:p.Val1542CysfsTer5 | |
| ENST00000618469.2:c.5512del | ENSP00000478114.2:p.Val1838CysfsTer5 | |
| ENST00000634433.2:c.5389del | ENSP00000489431.2:p.Val1797CysfsTer5 | |
| ENST00000644379.2:c.5578del | ENSP00000496570.2:p.Val1860CysfsTer5 | |
| ENST00000644555.2:c.2062del | ENSP00000494614.2:p.Val688CysfsTer5 | |
| ENST00000652672.2:c.5371del | ENSP00000498906.2:p.Val1791CysfsTer5 | |
| ENST00000484087.6:c.2074del | ENSP00000419481.2:p.Val692CysfsTer5 | |
| ENST00000700081.1:n.1395del | ||
| ENST00000700082.1:n.876del | ||
| ENST00000357654.9:c.5512del MANE Select | ENSP00000350283.3:p.Val1838CysfsTer5 | |
| ENST00000471181.7:c.5575del | ENSP00000418960.2:p.Val1859CysfsTer5 | |
| ENST00000644379.1:c.1899del | ||
| ENST00000352993.7:c.2086del | ENSP00000312236.5:p.Val696CysfsTer5 | |
| ENST00000357654.7:c.5512del | ENSP00000350283.3:p.Val1838CysfsTer5 | |
| ENST00000461221.5:c.*5295del | ENSP00000418548.1:n.*5295del | |
| ENST00000468300.5:c.*26del | ENSP00000417148.1:n.*26del | |
| ENST00000471181.6:c.5575del | ENSP00000418960.2:p.Val1859CysfsTer5 | |
| ENST00000491747.6:c.2200del | ENSP00000420705.2:p.Val734CysfsTer5 | |
| ENST00000493795.5:c.5371del | ENSP00000418775.1:p.Val1791CysfsTer5 | |
| ENST00000586385.5:c.442del | ENSP00000465818.1:p.Val148CysfsTer5 | |
| ENST00000591534.5:c.985del | ENSP00000467329.1:p.Val329CysfsTer5 | |
| ENST00000591849.5:c.211del | ENSP00000465347.1:p.Val71CysfsTer5 | |
| NM_007294.3:c.5512del , LRG_292t1:c.5512del | NP_009225.1:p.Val1838CysfsTer5 | |
| NM_007297.3:c.5371del | NP_009228.2:p.Val1791CysfsTer5 | |
| NM_007298.3:c.2200del | NP_009229.2:p.Val734CysfsTer5 | |
| NM_007299.3:c.*26del | NP_009230.2:n.*26del | |
| NM_007300.3:c.5575del | NP_009231.2:p.Val1859CysfsTer5 | |
| NR_027676.1:n.5648del | ||
| NM_007294.4:c.5512del MANE Select | NP_009225.1:p.Val1838CysfsTer5 | |
| NM_007297.4:c.5371del | NP_009228.2:p.Val1791CysfsTer5 | |
| NM_007299.4:c.*26del | NP_009230.2:n.*26del | |
| NM_007300.4:c.5575del | NP_009231.2:p.Val1859CysfsTer5 | |
| NR_027676.2:n.5689del |