Linked Data
ClinVar Variation Id:
37466
ClinVar RCV Id:
RCV000031047
RCV000047829
RCV000131426
RCV000159906
RCV000458659
RCV001270971
RCV001356861
RCV001391197
dbSNP Id:
rs80357664
gnomAD v4:
17-43093118-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093119_43093120del , CM000679.2:g.43093119_43093120del | GRCh38 |
| NC_000017.10:g.41245136_41245137del , CM000679.1:g.41245136_41245137del | GRCh37 |
| NC_000017.9:g.38498662_38498663del | NCBI36 |
| NG_005905.2:g.124864_124865del , LRG_292:g.124864_124865del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.2475_2476del | ||
| ENST00000461574.2:c.2411_2412del | ENSP00000417241.2:p.Gln804LeufsTer5 | |
| ENST00000470026.6:c.2411_2412del | ENSP00000419274.2:p.Gln804LeufsTer5 | |
| ENST00000473961.6:c.2285_2286del | ENSP00000420201.2:p.Gln762LeufsTer5 | |
| ENST00000476777.6:c.2408_2409del | ENSP00000417554.2:p.Gln803LeufsTer5 | |
| ENST00000477152.6:c.2333_2334del | ENSP00000419988.2:p.Gln778LeufsTer5 | |
| ENST00000478531.6:c.784+1624_784+1625del | ENSP00000420412.2:n.784+1624_784+1625del | |
| ENST00000489037.2:c.2333_2334del | ENSP00000420781.2:p.Gln778LeufsTer5 | |
| ENST00000493919.6:c.646+1624_646+1625del | ENSP00000418819.2:n.646+1624_646+1625del | |
| ENST00000494123.6:c.2411_2412del | ENSP00000419103.2:p.Gln804LeufsTer5 | |
| ENST00000497488.2:c.1523_1524del | ENSP00000418986.2:p.Gln508LeufsTer5 | |
| ENST00000618469.2:c.2411_2412del | ENSP00000478114.2:p.Gln804LeufsTer5 | |
| ENST00000634433.2:c.2288_2289del | ENSP00000489431.2:p.Gln763LeufsTer5 | |
| ENST00000644379.2:c.2411_2412del | ENSP00000496570.2:p.Gln804LeufsTer5 | |
| ENST00000644555.2:c.646+1624_646+1625del | ENSP00000494614.2:n.646+1624_646+1625del | |
| ENST00000652672.2:c.2270_2271del | ENSP00000498906.2:p.Gln757LeufsTer5 | |
| ENST00000484087.6:c.664+1624_664+1625del | ENSP00000419481.2:n.664+1624_664+1625del | |
| ENST00000700182.1:c.706+1624_706+1625del | ENSP00000514849.1:n.706+1624_706+1625del | |
| ENST00000357654.9:c.2411_2412del MANE Select | ENSP00000350283.3:p.Gln804LeufsTer5 | |
| ENST00000471181.7:c.2411_2412del | ENSP00000418960.2:p.Gln804LeufsTer5 | |
| ENST00000352993.7:c.671-2088_671-2087del | ENSP00000312236.5:n.671-2088_671-2087del | |
| ENST00000354071.7:c.2411_2412del | ENSP00000326002.7:p.Gln804LeufsTer5 | |
| ENST00000357654.7:c.2411_2412del | ENSP00000350283.3:p.Gln804LeufsTer5 | |
| ENST00000461221.5:c.*2194_*2195del | ENSP00000418548.1:n.*2194_*2195del | |
| ENST00000468300.5:c.787+1624_787+1625del | ENSP00000417148.1:n.787+1624_787+1625del | |
| ENST00000471181.6:c.2411_2412del | ENSP00000418960.2:p.Gln804LeufsTer5 | |
| ENST00000478531.5:c.784+1624_784+1625del | ENSP00000420412.1:n.784+1624_784+1625del | |
| ENST00000484087.5:c.409+1624_409+1625del | ENSP00000419481.1:n.409+1624_409+1625del | |
| ENST00000487825.5:c.412+1624_412+1625del | ENSP00000418212.1:n.412+1624_412+1625del | |
| ENST00000491747.6:c.787+1624_787+1625del | ENSP00000420705.2:n.787+1624_787+1625del | |
| ENST00000493795.5:c.2270_2271del | ENSP00000418775.1:p.Gln757LeufsTer5 | |
| ENST00000493919.5:c.646+1624_646+1625del | ENSP00000418819.1:n.646+1624_646+1625del | |
| ENST00000586385.5:c.5-29169_5-29168del | ENSP00000465818.1:n.5-29169_5-29168del | |
| ENST00000591534.5:c.-43-18599_-43-18598del | ENSP00000467329.1:n.-43-18599_-43-18598de... | |
| ENST00000591849.5:c.-99+32151_-99+32152del | ENSP00000465347.1:n.-99+32151_-99+32152de... | |
| ENST00000634433.1:c.2288_2289del | ENSP00000489431.1:p.Gln763LeufsTer5 | |
| NM_007294.3:c.2411_2412del , LRG_292t1:c.2411_2412del | NP_009225.1:p.Gln804LeufsTer5 | |
| NM_007297.3:c.2270_2271del | NP_009228.2:p.Gln757LeufsTer5 | |
| NM_007298.3:c.787+1624_787+1625del | NP_009229.2:n.787+1624_787+1625del | |
| NM_007299.3:c.787+1624_787+1625del | NP_009230.2:n.787+1624_787+1625del | |
| NM_007300.3:c.2411_2412del | NP_009231.2:p.Gln804LeufsTer5 | |
| NR_027676.1:n.2547_2548del | ||
| NM_007294.4:c.2411_2412del MANE Select | NP_009225.1:p.Gln804LeufsTer5 | |
| NM_007297.4:c.2270_2271del | NP_009228.2:p.Gln757LeufsTer5 | |
| NM_007299.4:c.787+1624_787+1625del | NP_009230.2:n.787+1624_787+1625del | |
| NM_007300.4:c.2411_2412del | NP_009231.2:p.Gln804LeufsTer5 | |
| NR_027676.2:n.2588_2589del |