Linked Data
ClinVar Variation Id:
55597
dbSNP Id:
rs273902775
MyVariant Identifiers:
chr17:g.41197781_41197791delinsT (hg19)
chr17:g.43045764_43045774delinsT (hg38)
PubMed:
PMID:16455195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045764_43045774delinsT , CM000679.2:g.43045764_43045774delinsT | GRCh38 |
| NC_000017.10:g.41197781_41197791delinsT , CM000679.1:g.41197781_41197791delinsT | GRCh37 |
| NC_000017.9:g.38451307_38451317delinsT | NCBI36 |
| NG_005905.2:g.172210_172220delinsA , LRG_292:g.172210_172220delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5493_5503delinsA | ENSP00000417241.2:p.Val1832SerfsTer7 | |
| ENST00000470026.6:c.5496_5506delinsA | ENSP00000419274.2:p.Val1833SerfsTer7 | |
| ENST00000473961.6:c.5370_5380delinsA | ENSP00000420201.2:p.Val1791SerfsTer7 | |
| ENST00000476777.6:c.5490_5500delinsA | ENSP00000417554.2:p.Val1831SerfsTer7 | |
| ENST00000477152.6:c.5418_5428delinsA | ENSP00000419988.2:p.Val1807SerfsTer7 | |
| ENST00000478531.6:c.2184_2194delinsA | ENSP00000420412.2:p.Val729SerfsTer7 | |
| ENST00000489037.2:c.5418_5428delinsA | ENSP00000420781.2:p.Val1807SerfsTer7 | |
| ENST00000493919.6:c.2046_2056delinsA | ENSP00000418819.2:p.Val683SerfsTer7 | |
| ENST00000494123.6:c.5496_5506delinsA | ENSP00000419103.2:p.Val1833SerfsTer7 | |
| ENST00000497488.2:c.4608_4618delinsA | ENSP00000418986.2:p.Val1537SerfsTer7 | |
| ENST00000618469.2:c.5496_5506delinsA | ENSP00000478114.2:p.Val1833SerfsTer7 | |
| ENST00000634433.2:c.5373_5383delinsA | ENSP00000489431.2:p.Val1792SerfsTer7 | |
| ENST00000644379.2:c.5562_5572delinsA | ENSP00000496570.2:p.Val1855SerfsTer7 | |
| ENST00000644555.2:c.2046_2056delinsA | ENSP00000494614.2:p.Val683SerfsTer7 | |
| ENST00000652672.2:c.5355_5365delinsA | ENSP00000498906.2:p.Val1786SerfsTer7 | |
| ENST00000484087.6:c.2058_2068delinsA | ENSP00000419481.2:p.Val687SerfsTer7 | |
| ENST00000700081.1:n.1379_1389delinsA | ||
| ENST00000700082.1:n.860_870delinsA | ||
| ENST00000357654.9:c.5496_5506delinsA MANE Select | ENSP00000350283.3:p.Val1833SerfsTer7 | |
| ENST00000471181.7:c.5559_5569delinsA | ENSP00000418960.2:p.Val1854SerfsTer7 | |
| ENST00000644379.1:c.1883_1893delinsA | ||
| ENST00000352993.7:c.2070_2080delinsA | ENSP00000312236.5:p.Val691SerfsTer7 | |
| ENST00000357654.7:c.5496_5506delinsA | ENSP00000350283.3:p.Val1833SerfsTer7 | |
| ENST00000461221.5:c.*5279_*5289delinsA | ENSP00000418548.1:n.*5279_*5289delinsA | |
| ENST00000468300.5:c.*10_*20delinsA | ENSP00000417148.1:n.*10_*20delinsA | |
| ENST00000471181.6:c.5559_5569delinsA | ENSP00000418960.2:p.Val1854SerfsTer7 | |
| ENST00000491747.6:c.2184_2194delinsA | ENSP00000420705.2:p.Val729SerfsTer7 | |
| ENST00000493795.5:c.5355_5365delinsA | ENSP00000418775.1:p.Val1786SerfsTer7 | |
| ENST00000586385.5:c.426_436delinsA | ENSP00000465818.1:p.Val143SerfsTer7 | |
| ENST00000591534.5:c.969_979delinsA | ENSP00000467329.1:p.Val324SerfsTer7 | |
| ENST00000591849.5:c.195_205delinsA | ENSP00000465347.1:p.Val66SerfsTer7 | |
| NM_007294.3:c.5496_5506delinsA , LRG_292t1:c.5496_5506delinsA | NP_009225.1:p.Val1833SerfsTer7 | |
| NM_007297.3:c.5355_5365delinsA | NP_009228.2:p.Val1786SerfsTer7 | |
| NM_007298.3:c.2184_2194delinsA | NP_009229.2:p.Val729SerfsTer7 | |
| NM_007299.3:c.*10_*20delinsA | NP_009230.2:n.*10_*20delinsA | |
| NM_007300.3:c.5559_5569delinsA | NP_009231.2:p.Val1854SerfsTer7 | |
| NR_027676.1:n.5632_5642delinsA | ||
| NM_007294.4:c.5496_5506delinsA MANE Select | NP_009225.1:p.Val1833SerfsTer7 | |
| NM_007297.4:c.5355_5365delinsA | NP_009228.2:p.Val1786SerfsTer7 | |
| NM_007299.4:c.*10_*20delinsA | NP_009230.2:n.*10_*20delinsA | |
| NM_007300.4:c.5559_5569delinsA | NP_009231.2:p.Val1854SerfsTer7 | |
| NR_027676.2:n.5673_5683delinsA |