Linked Data
ClinVar Variation Id:
246021
dbSNP Id:
rs879254050
gnomAD v2:
17-41219641-A-ATGAG
gnomAD v3:
17-43067624-A-ATGAG
gnomAD v4:
17-43067624-A-ATGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067626_43067629dup , CM000679.2:g.43067626_43067629dup | GRCh38 |
| NC_000017.10:g.41219643_41219646dup , CM000679.1:g.41219643_41219646dup | GRCh37 |
| NC_000017.9:g.38473169_38473172dup | NCBI36 |
| NG_005905.2:g.150356_150359dup , LRG_292:g.150356_150359dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5051_5054dup | ENSP00000417241.2:p.Val1686SerfsTer9 | |
| ENST00000470026.6:c.5054_5057dup | ENSP00000419274.2:p.Val1687SerfsTer9 | |
| ENST00000473961.6:c.4928_4931dup | ENSP00000420201.2:p.Val1645SerfsTer9 | |
| ENST00000476777.6:c.5048_5051dup | ENSP00000417554.2:p.Val1685SerfsTer9 | |
| ENST00000477152.6:c.4976_4979dup | ENSP00000419988.2:p.Val1661SerfsTer9 | |
| ENST00000478531.6:c.1742_1745dup | ENSP00000420412.2:p.Val583SerfsTer9 | |
| ENST00000489037.2:c.4976_4979dup | ENSP00000420781.2:p.Val1661SerfsTer9 | |
| ENST00000493919.6:c.1604_1607dup | ENSP00000418819.2:p.Val537SerfsTer9 | |
| ENST00000494123.6:c.5054_5057dup | ENSP00000419103.2:p.Val1687SerfsTer9 | |
| ENST00000497488.2:c.4166_4169dup | ENSP00000418986.2:p.Val1391SerfsTer9 | |
| ENST00000618469.2:c.5054_5057dup | ENSP00000478114.2:p.Val1687SerfsTer9 | |
| ENST00000634433.2:c.4931_4934dup | ENSP00000489431.2:p.Val1646SerfsTer9 | |
| ENST00000644379.2:c.5120_5123dup | ENSP00000496570.2:p.Val1709SerfsTer9 | |
| ENST00000644555.2:c.1604_1607dup | ENSP00000494614.2:p.Val537SerfsTer9 | |
| ENST00000652672.2:c.4913_4916dup | ENSP00000498906.2:p.Val1640SerfsTer9 | |
| ENST00000484087.6:c.1616_1619dup | ENSP00000419481.2:p.Val541SerfsTer9 | |
| ENST00000357654.9:c.5054_5057dup MANE Select | ENSP00000350283.3:p.Val1687SerfsTer9 | |
| ENST00000471181.7:c.5117_5120dup | ENSP00000418960.2:p.Val1708SerfsTer9 | |
| ENST00000644379.1:c.1441_1444dup | ||
| ENST00000352993.7:c.1628_1631dup | ENSP00000312236.5:p.Val545SerfsTer9 | |
| ENST00000357654.7:c.5054_5057dup | ENSP00000350283.3:p.Val1687SerfsTer9 | |
| ENST00000461221.5:c.*4837_*4840dup | ENSP00000418548.1:n.*4837_*4840dup | |
| ENST00000468300.5:c.1742_1745dup | ENSP00000417148.1:p.Val583SerfsTer9 | |
| ENST00000471181.6:c.5117_5120dup | ENSP00000418960.2:p.Val1708SerfsTer9 | |
| ENST00000472490.1:n.207_210dup | ||
| ENST00000478531.5:c.1742_1745dup | ENSP00000420412.1:p.Val583SerfsTer9 | |
| ENST00000484087.5:c.1367_1370dup | ENSP00000419481.1:p.Val458SerfsTer9 | |
| ENST00000491747.6:c.1742_1745dup | ENSP00000420705.2:p.Val583SerfsTer9 | |
| ENST00000493795.5:c.4913_4916dup | ENSP00000418775.1:p.Val1640SerfsTer9 | |
| ENST00000493919.5:c.1604_1607dup | ENSP00000418819.1:p.Val537SerfsTer9 | |
| ENST00000586385.5:c.5-3677_5-3674dup | ENSP00000465818.1:n.5-3677_5-3674dup | |
| ENST00000591534.5:c.527_530dup | ENSP00000467329.1:p.Val178SerfsTer9 | |
| ENST00000591849.5:c.-98-17438_-98-17435dup | ENSP00000465347.1:n.-98-17438_-98-17435dup | |
| NM_007294.3:c.5054_5057dup , LRG_292t1:c.5054_5057dup | NP_009225.1:p.Val1687SerfsTer9 | |
| NM_007297.3:c.4913_4916dup | NP_009228.2:p.Val1640SerfsTer9 | |
| NM_007298.3:c.1742_1745dup | NP_009229.2:p.Val583SerfsTer9 | |
| NM_007299.3:c.1742_1745dup | NP_009230.2:p.Val583SerfsTer9 | |
| NM_007300.3:c.5117_5120dup | NP_009231.2:p.Val1708SerfsTer9 | |
| NR_027676.1:n.5190_5193dup | ||
| NM_007294.4:c.5054_5057dup MANE Select | NP_009225.1:p.Val1687SerfsTer9 | |
| NM_007297.4:c.4913_4916dup | NP_009228.2:p.Val1640SerfsTer9 | |
| NM_007299.4:c.1742_1745dup | NP_009230.2:p.Val583SerfsTer9 | |
| NM_007300.4:c.5117_5120dup | NP_009231.2:p.Val1708SerfsTer9 | |
| NR_027676.2:n.5231_5234dup |