Linked Data
ClinVar Variation Id:
37459
dbSNP Id:
rs80357583
ExAC:
17:41245278 AC / A
gnomAD v2:
17-41245278-AC-A
gnomAD v4:
17-43093261-AC-A
COSMIC:
COSM23943
PubMed:
PMID:9150149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093264del , CM000679.2:g.43093264del | GRCh38 |
| NC_000017.10:g.41245281del , CM000679.1:g.41245281del | GRCh37 |
| NC_000017.9:g.38498807del | NCBI36 |
| NG_005905.2:g.124722del , LRG_292:g.124722del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.2333del | ||
| ENST00000461574.2:c.2269del | ENSP00000417241.2:p.Val757PhefsTer8 | |
| ENST00000470026.6:c.2269del | ENSP00000419274.2:p.Val757PhefsTer8 | |
| ENST00000473961.6:c.2143del | ENSP00000420201.2:p.Val715PhefsTer8 | |
| ENST00000476777.6:c.2266del | ENSP00000417554.2:p.Val756PhefsTer8 | |
| ENST00000477152.6:c.2191del | ENSP00000419988.2:p.Val731PhefsTer8 | |
| ENST00000478531.6:c.784+1482del | ENSP00000420412.2:n.784+1482del | |
| ENST00000489037.2:c.2191del | ENSP00000420781.2:p.Val731PhefsTer8 | |
| ENST00000493919.6:c.646+1482del | ENSP00000418819.2:n.646+1482del | |
| ENST00000494123.6:c.2269del | ENSP00000419103.2:p.Val757PhefsTer8 | |
| ENST00000497488.2:c.1381del | ENSP00000418986.2:p.Val461PhefsTer8 | |
| ENST00000618469.2:c.2269del | ENSP00000478114.2:p.Val757PhefsTer8 | |
| ENST00000634433.2:c.2146del | ENSP00000489431.2:p.Val716PhefsTer8 | |
| ENST00000644379.2:c.2269del | ENSP00000496570.2:p.Val757PhefsTer8 | |
| ENST00000644555.2:c.646+1482del | ENSP00000494614.2:n.646+1482del | |
| ENST00000652672.2:c.2128del | ENSP00000498906.2:p.Val710PhefsTer8 | |
| ENST00000484087.6:c.664+1482del | ENSP00000419481.2:n.664+1482del | |
| ENST00000700182.1:c.706+1482del | ENSP00000514849.1:n.706+1482del | |
| ENST00000357654.9:c.2269del MANE Select | ENSP00000350283.3:p.Val757PhefsTer8 | |
| ENST00000471181.7:c.2269del | ENSP00000418960.2:p.Val757PhefsTer8 | |
| ENST00000352993.7:c.671-2230del | ENSP00000312236.5:n.671-2230del | |
| ENST00000354071.7:c.2269del | ENSP00000326002.7:p.Val757PhefsTer8 | |
| ENST00000357654.7:c.2269del | ENSP00000350283.3:p.Val757PhefsTer8 | |
| ENST00000461221.5:c.*2052del | ENSP00000418548.1:n.*2052del | |
| ENST00000468300.5:c.787+1482del | ENSP00000417148.1:n.787+1482del | |
| ENST00000471181.6:c.2269del | ENSP00000418960.2:p.Val757PhefsTer8 | |
| ENST00000478531.5:c.784+1482del | ENSP00000420412.1:n.784+1482del | |
| ENST00000484087.5:c.409+1482del | ENSP00000419481.1:n.409+1482del | |
| ENST00000487825.5:c.412+1482del | ENSP00000418212.1:n.412+1482del | |
| ENST00000491747.6:c.787+1482del | ENSP00000420705.2:n.787+1482del | |
| ENST00000493795.5:c.2128del | ENSP00000418775.1:p.Val710PhefsTer8 | |
| ENST00000493919.5:c.646+1482del | ENSP00000418819.1:n.646+1482del | |
| ENST00000586385.5:c.5-29311del | ENSP00000465818.1:n.5-29311del | |
| ENST00000591534.5:c.-43-18741del | ENSP00000467329.1:n.-43-18741del | |
| ENST00000591849.5:c.-99+32009del | ENSP00000465347.1:n.-99+32009del | |
| ENST00000634433.1:c.2146del | ENSP00000489431.1:p.Val716PhefsTer8 | |
| NM_007294.3:c.2269del , LRG_292t1:c.2269del | NP_009225.1:p.Val757PhefsTer8 | |
| NM_007297.3:c.2128del | NP_009228.2:p.Val710PhefsTer8 | |
| NM_007298.3:c.787+1482del | NP_009229.2:n.787+1482del | |
| NM_007299.3:c.787+1482del | NP_009230.2:n.787+1482del | |
| NM_007300.3:c.2269del | NP_009231.2:p.Val757PhefsTer8 | |
| NR_027676.1:n.2405del | ||
| NM_007294.4:c.2269del MANE Select | NP_009225.1:p.Val757PhefsTer8 | |
| NM_007297.4:c.2128del | NP_009228.2:p.Val710PhefsTer8 | |
| NM_007299.4:c.787+1482del | NP_009230.2:n.787+1482del | |
| NM_007300.4:c.2269del | NP_009231.2:p.Val757PhefsTer8 | |
| NR_027676.2:n.2446del |