Linked Data
ClinVar Variation Id:
372068
dbSNP Id:
rs1057517637
gnomAD v4:
17-43047669-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047670dup , CM000679.2:g.43047670dup | GRCh38 |
| NC_000017.10:g.41199687dup , CM000679.1:g.41199687dup | GRCh37 |
| NC_000017.9:g.38453213dup | NCBI36 |
| NG_005905.2:g.170314dup , LRG_292:g.170314dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5437dup | ENSP00000417241.2:p.Ala1813GlyfsTer16 | |
| ENST00000470026.6:c.5440dup | ENSP00000419274.2:p.Ala1814GlyfsTer16 | |
| ENST00000473961.6:c.5314dup | ENSP00000420201.2:p.Ala1772GlyfsTer16 | |
| ENST00000476777.6:c.5434dup | ENSP00000417554.2:p.Ala1812GlyfsTer16 | |
| ENST00000477152.6:c.5362dup | ENSP00000419988.2:p.Ala1788GlyfsTer16 | |
| ENST00000478531.6:c.2128dup | ENSP00000420412.2:p.Ala710GlyfsTer16 | |
| ENST00000489037.2:c.5362dup | ENSP00000420781.2:p.Ala1788GlyfsTer16 | |
| ENST00000493919.6:c.1990dup | ENSP00000418819.2:p.Ala664GlyfsTer16 | |
| ENST00000494123.6:c.5440dup | ENSP00000419103.2:p.Ala1814GlyfsTer16 | |
| ENST00000497488.2:c.4552dup | ENSP00000418986.2:p.Ala1518GlyfsTer16 | |
| ENST00000618469.2:c.5440dup | ENSP00000478114.2:p.Ala1814GlyfsTer16 | |
| ENST00000634433.2:c.5317dup | ENSP00000489431.2:p.Ala1773GlyfsTer16 | |
| ENST00000644379.2:c.5506dup | ENSP00000496570.2:p.Ala1836GlyfsTer16 | |
| ENST00000644555.2:c.1990dup | ENSP00000494614.2:p.Ala664GlyfsTer16 | |
| ENST00000652672.2:c.5299dup | ENSP00000498906.2:p.Ala1767GlyfsTer16 | |
| ENST00000484087.6:c.2002dup | ENSP00000419481.2:p.Ala668GlyfsTer16 | |
| ENST00000700081.1:n.1323dup | ||
| ENST00000700082.1:n.804dup | ||
| ENST00000357654.9:c.5440dup MANE Select | ENSP00000350283.3:p.Ala1814GlyfsTer16 | |
| ENST00000471181.7:c.5503dup | ENSP00000418960.2:p.Ala1835GlyfsTer16 | |
| ENST00000644379.1:c.1827dup | ||
| ENST00000352993.7:c.2014dup | ENSP00000312236.5:p.Ala672GlyfsTer16 | |
| ENST00000357654.7:c.5440dup | ENSP00000350283.3:p.Ala1814GlyfsTer16 | |
| ENST00000461221.5:c.*5223dup | ENSP00000418548.1:n.*5223dup | |
| ENST00000468300.5:c.2054dup | ENSP00000417148.1:p.Cys685TrpfsTer21 | |
| ENST00000471181.6:c.5503dup | ENSP00000418960.2:p.Ala1835GlyfsTer16 | |
| ENST00000491747.6:c.2128dup | ENSP00000420705.2:p.Ala710GlyfsTer16 | |
| ENST00000493795.5:c.5299dup | ENSP00000418775.1:p.Ala1767GlyfsTer16 | |
| ENST00000586385.5:c.370dup | ENSP00000465818.1:p.Ala124GlyfsTer16 | |
| ENST00000591534.5:c.913dup | ENSP00000467329.1:p.Ala305GlyfsTer16 | |
| ENST00000591849.5:c.139dup | ENSP00000465347.1:p.Ala47GlyfsTer16 | |
| NM_007294.3:c.5440dup , LRG_292t1:c.5440dup | NP_009225.1:p.Ala1814GlyfsTer16 | |
| NM_007297.3:c.5299dup | NP_009228.2:p.Ala1767GlyfsTer16 | |
| NM_007298.3:c.2128dup | NP_009229.2:p.Ala710GlyfsTer16 | |
| NM_007299.3:c.2054dup | NP_009230.2:p.Cys685TrpfsTer21 | |
| NM_007300.3:c.5503dup | NP_009231.2:p.Ala1835GlyfsTer16 | |
| NR_027676.1:n.5576dup | ||
| NM_007294.4:c.5440dup MANE Select | NP_009225.1:p.Ala1814GlyfsTer16 | |
| NM_007297.4:c.5299dup | NP_009228.2:p.Ala1767GlyfsTer16 | |
| NM_007299.4:c.2054dup | NP_009230.2:p.Cys685TrpfsTer21 | |
| NM_007300.4:c.5503dup | NP_009231.2:p.Ala1835GlyfsTer16 | |
| NR_027676.2:n.5617dup |