Linked Data
ClinVar Variation Id:
55735
dbSNP Id:
rs80357989
gnomAD v4:
17-43094680-T-TGTAATGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094682_43094688dup , CM000679.2:g.43094682_43094688dup | GRCh38 |
| NC_000017.10:g.41246699_41246705dup , CM000679.1:g.41246699_41246705dup | GRCh37 |
| NC_000017.9:g.38500225_38500231dup | NCBI36 |
| NG_005905.2:g.123297_123303dup , LRG_292:g.123297_123303dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.908_914dup | ||
| ENST00000461574.2:c.844_850dup | ENSP00000417241.2:p.Gln284LeufsTer5 | |
| ENST00000470026.6:c.844_850dup | ENSP00000419274.2:p.Gln284LeufsTer5 | |
| ENST00000473961.6:c.718_724dup | ENSP00000420201.2:p.Gln242LeufsTer5 | |
| ENST00000476777.6:c.841_847dup | ENSP00000417554.2:p.Gln283LeufsTer5 | |
| ENST00000477152.6:c.766_772dup | ENSP00000419988.2:p.Gln258LeufsTer5 | |
| ENST00000478531.6:c.784+57_784+63dup | ENSP00000420412.2:n.784+57_784+63dup | |
| ENST00000489037.2:c.766_772dup | ENSP00000420781.2:p.Gln258LeufsTer5 | |
| ENST00000493919.6:c.646+57_646+63dup | ENSP00000418819.2:n.646+57_646+63dup | |
| ENST00000494123.6:c.844_850dup | ENSP00000419103.2:p.Gln284LeufsTer5 | |
| ENST00000497488.2:c.-45_-39dup | ENSP00000418986.2:n.-45_-39dup | |
| ENST00000618469.2:c.844_850dup | ENSP00000478114.2:p.Gln284LeufsTer5 | |
| ENST00000634433.2:c.721_727dup | ENSP00000489431.2:p.Gln243LeufsTer5 | |
| ENST00000644379.2:c.844_850dup | ENSP00000496570.2:p.Gln284LeufsTer5 | |
| ENST00000644555.2:c.646+57_646+63dup | ENSP00000494614.2:n.646+57_646+63dup | |
| ENST00000652672.2:c.703_709dup | ENSP00000498906.2:p.Gln237LeufsTer5 | |
| ENST00000484087.6:c.664+57_664+63dup | ENSP00000419481.2:n.664+57_664+63dup | |
| ENST00000700182.1:c.706+57_706+63dup | ENSP00000514849.1:n.706+57_706+63dup | |
| ENST00000700183.1:c.*852_*858dup | ENSP00000514850.1:n.*852_*858dup | |
| ENST00000357654.9:c.844_850dup MANE Select | ENSP00000350283.3:p.Gln284LeufsTer5 | |
| ENST00000471181.7:c.844_850dup | ENSP00000418960.2:p.Gln284LeufsTer5 | |
| ENST00000642945.1:c.*718_*724dup | ENSP00000495897.1:n.*718_*724dup | |
| ENST00000652672.1:c.703_709dup | ENSP00000498906.1:p.Gln237LeufsTer5 | |
| ENST00000352993.7:c.670+1159_670+1165dup | ENSP00000312236.5:n.670+1159_670+1165dup | |
| ENST00000354071.7:c.844_850dup | ENSP00000326002.7:p.Gln284LeufsTer5 | |
| ENST00000357654.7:c.844_850dup | ENSP00000350283.3:p.Gln284LeufsTer5 | |
| ENST00000412061.3:c.195_201dup | ||
| ENST00000461221.5:c.*627_*633dup | ENSP00000418548.1:n.*627_*633dup | |
| ENST00000468300.5:c.787+57_787+63dup | ENSP00000417148.1:n.787+57_787+63dup | |
| ENST00000470026.5:c.844_850dup | ENSP00000419274.1:p.Gln284LeufsTer5 | |
| ENST00000471181.6:c.844_850dup | ENSP00000418960.2:p.Gln284LeufsTer5 | |
| ENST00000473961.5:c.441_447dup | ||
| ENST00000477152.5:c.766_772dup | ENSP00000419988.1:p.Gln258LeufsTer5 | |
| ENST00000478531.5:c.784+57_784+63dup | ENSP00000420412.1:n.784+57_784+63dup | |
| ENST00000484087.5:c.409+57_409+63dup | ENSP00000419481.1:n.409+57_409+63dup | |
| ENST00000487825.5:c.412+57_412+63dup | ENSP00000418212.1:n.412+57_412+63dup | |
| ENST00000491747.6:c.787+57_787+63dup | ENSP00000420705.2:n.787+57_787+63dup | |
| ENST00000492859.5:c.*780_*786dup | ENSP00000420253.1:n.*780_*786dup | |
| ENST00000493795.5:c.703_709dup | ENSP00000418775.1:p.Gln237LeufsTer5 | |
| ENST00000493919.5:c.646+57_646+63dup | ENSP00000418819.1:n.646+57_646+63dup | |
| ENST00000494123.5:c.844_850dup | ENSP00000419103.1:p.Gln284LeufsTer5 | |
| ENST00000497488.1:c.-45_-39dup | ENSP00000418986.1:n.-45_-39dup | |
| ENST00000586385.5:c.4+30495_4+30501dup | ENSP00000465818.1:n.4+30495_4+30501dup | |
| ENST00000591534.5:c.-43-20166_-43-20160dup | ENSP00000467329.1:n.-43-20166_-43-20160du... | |
| ENST00000591849.5:c.-99+30584_-99+30590dup | ENSP00000465347.1:n.-99+30584_-99+30590du... | |
| ENST00000634433.1:c.721_727dup | ENSP00000489431.1:p.Gln243LeufsTer5 | |
| NM_007294.3:c.844_850dup , LRG_292t1:c.844_850dup | NP_009225.1:p.Gln284LeufsTer5 | |
| NM_007297.3:c.703_709dup | NP_009228.2:p.Gln237LeufsTer5 | |
| NM_007298.3:c.787+57_787+63dup | NP_009229.2:n.787+57_787+63dup | |
| NM_007299.3:c.787+57_787+63dup | NP_009230.2:n.787+57_787+63dup | |
| NM_007300.3:c.844_850dup | NP_009231.2:p.Gln284LeufsTer5 | |
| NR_027676.1:n.980_986dup | ||
| NM_007294.4:c.844_850dup MANE Select | NP_009225.1:p.Gln284LeufsTer5 | |
| NM_007297.4:c.703_709dup | NP_009228.2:p.Gln237LeufsTer5 | |
| NM_007299.4:c.787+57_787+63dup | NP_009230.2:n.787+57_787+63dup | |
| NM_007300.4:c.844_850dup | NP_009231.2:p.Gln284LeufsTer5 | |
| NR_027676.2:n.1021_1027dup |