Linked Data
ClinVar Variation Id:
55723
ClinVar RCV Id:
RCV000019258
RCV000049156
RCV000074602
RCV000129599
RCV000468976
RCV000735513
RCV002496721
dbSNP Id:
rs387906563
gnomAD v2:
17-41246723-G-GCCACATGGCT
gnomAD v3:
17-43094706-G-GCCACATGGCT
gnomAD v4:
17-43094706-G-GCCACATGGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094714_43094723dup , CM000679.2:g.43094714_43094723dup | GRCh38 |
| NC_000017.10:g.41246731_41246740dup , CM000679.1:g.41246731_41246740dup | GRCh37 |
| NC_000017.9:g.38500257_38500266dup | NCBI36 |
| NG_005905.2:g.123268_123277dup , LRG_292:g.123268_123277dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.879_888dup | ||
| ENST00000461574.2:c.815_824dup | ENSP00000417241.2:p.Thr276AlafsTer14 | |
| ENST00000470026.6:c.815_824dup | ENSP00000419274.2:p.Thr276AlafsTer14 | |
| ENST00000473961.6:c.689_698dup | ENSP00000420201.2:p.Thr234AlafsTer14 | |
| ENST00000476777.6:c.812_821dup | ENSP00000417554.2:p.Thr275AlafsTer14 | |
| ENST00000477152.6:c.737_746dup | ENSP00000419988.2:p.Thr250AlafsTer14 | |
| ENST00000478531.6:c.784+28_784+37dup | ENSP00000420412.2:n.784+28_784+37dup | |
| ENST00000489037.2:c.737_746dup | ENSP00000420781.2:p.Thr250AlafsTer14 | |
| ENST00000493919.6:c.646+28_646+37dup | ENSP00000418819.2:n.646+28_646+37dup | |
| ENST00000494123.6:c.815_824dup | ENSP00000419103.2:p.Thr276AlafsTer14 | |
| ENST00000497488.2:c.-74_-65dup | ENSP00000418986.2:n.-74_-65dup | |
| ENST00000618469.2:c.815_824dup | ENSP00000478114.2:p.Thr276AlafsTer14 | |
| ENST00000634433.2:c.692_701dup | ENSP00000489431.2:p.Thr235AlafsTer14 | |
| ENST00000644379.2:c.815_824dup | ENSP00000496570.2:p.Thr276AlafsTer14 | |
| ENST00000644555.2:c.646+28_646+37dup | ENSP00000494614.2:n.646+28_646+37dup | |
| ENST00000652672.2:c.674_683dup | ENSP00000498906.2:p.Thr229AlafsTer14 | |
| ENST00000484087.6:c.664+28_664+37dup | ENSP00000419481.2:n.664+28_664+37dup | |
| ENST00000700182.1:c.706+28_706+37dup | ENSP00000514849.1:n.706+28_706+37dup | |
| ENST00000700183.1:c.*823_*832dup | ENSP00000514850.1:n.*823_*832dup | |
| ENST00000357654.9:c.815_824dup MANE Select | ENSP00000350283.3:p.Thr276AlafsTer14 | |
| ENST00000471181.7:c.815_824dup | ENSP00000418960.2:p.Thr276AlafsTer14 | |
| ENST00000642945.1:c.*689_*698dup | ENSP00000495897.1:n.*689_*698dup | |
| ENST00000652672.1:c.674_683dup | ENSP00000498906.1:p.Thr229AlafsTer14 | |
| ENST00000352993.7:c.670+1130_670+1139dup | ENSP00000312236.5:n.670+1130_670+1139dup | |
| ENST00000354071.7:c.815_824dup | ENSP00000326002.7:p.Thr276AlafsTer14 | |
| ENST00000357654.7:c.815_824dup | ENSP00000350283.3:p.Thr276AlafsTer14 | |
| ENST00000412061.3:c.166_175dup | ||
| ENST00000461221.5:c.*598_*607dup | ENSP00000418548.1:n.*598_*607dup | |
| ENST00000468300.5:c.787+28_787+37dup | ENSP00000417148.1:n.787+28_787+37dup | |
| ENST00000470026.5:c.815_824dup | ENSP00000419274.1:p.Thr276AlafsTer14 | |
| ENST00000471181.6:c.815_824dup | ENSP00000418960.2:p.Thr276AlafsTer14 | |
| ENST00000473961.5:c.412_421dup | ||
| ENST00000477152.5:c.737_746dup | ENSP00000419988.1:p.Thr250AlafsTer14 | |
| ENST00000478531.5:c.784+28_784+37dup | ENSP00000420412.1:n.784+28_784+37dup | |
| ENST00000484087.5:c.409+28_409+37dup | ENSP00000419481.1:n.409+28_409+37dup | |
| ENST00000487825.5:c.412+28_412+37dup | ENSP00000418212.1:n.412+28_412+37dup | |
| ENST00000491747.6:c.787+28_787+37dup | ENSP00000420705.2:n.787+28_787+37dup | |
| ENST00000492859.5:c.*751_*760dup | ENSP00000420253.1:n.*751_*760dup | |
| ENST00000493795.5:c.674_683dup | ENSP00000418775.1:p.Thr229AlafsTer14 | |
| ENST00000493919.5:c.646+28_646+37dup | ENSP00000418819.1:n.646+28_646+37dup | |
| ENST00000494123.5:c.815_824dup | ENSP00000419103.1:p.Thr276AlafsTer14 | |
| ENST00000497488.1:c.-74_-65dup | ENSP00000418986.1:n.-74_-65dup | |
| ENST00000586385.5:c.4+30466_4+30475dup | ENSP00000465818.1:n.4+30466_4+30475dup | |
| ENST00000591534.5:c.-43-20195_-43-20186dup | ENSP00000467329.1:n.-43-20195_-43-20186dup | |
| ENST00000591849.5:c.-99+30555_-99+30564dup | ENSP00000465347.1:n.-99+30555_-99+30564dup | |
| ENST00000634433.1:c.692_701dup | ENSP00000489431.1:p.Thr235AlafsTer14 | |
| NM_007294.3:c.815_824dup , LRG_292t1:c.815_824dup | NP_009225.1:p.Thr276AlafsTer14 | |
| NM_007297.3:c.674_683dup | NP_009228.2:p.Thr229AlafsTer14 | |
| NM_007298.3:c.787+28_787+37dup | NP_009229.2:n.787+28_787+37dup | |
| NM_007299.3:c.787+28_787+37dup | NP_009230.2:n.787+28_787+37dup | |
| NM_007300.3:c.815_824dup | NP_009231.2:p.Thr276AlafsTer14 | |
| NR_027676.1:n.951_960dup | ||
| NM_007294.4:c.815_824dup MANE Select | NP_009225.1:p.Thr276AlafsTer14 | |
| NM_007297.4:c.674_683dup | NP_009228.2:p.Thr229AlafsTer14 | |
| NM_007299.4:c.787+28_787+37dup | NP_009230.2:n.787+28_787+37dup | |
| NM_007300.4:c.815_824dup | NP_009231.2:p.Thr276AlafsTer14 | |
| NR_027676.2:n.992_1001dup |