Linked Data
ClinVar Variation Id:
55625
ClinVar RCV Id:
RCV000256895
dbSNP Id:
rs397509297
MyVariant Identifiers:
chr17:g.41197734dupG (hg19)
chr17:g.41197733_41197734insG (hg19)
chr17:g.43045717dupG (hg38)
chr17:g.43045716_43045717insG (hg38)
PubMed:
PMID:16455195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045717dup , CM000679.2:g.43045717dup | GRCh38 |
| NC_000017.10:g.41197734dup , CM000679.1:g.41197734dup | GRCh37 |
| NC_000017.9:g.38451260dup | NCBI36 |
| NG_005905.2:g.172267dup , LRG_292:g.172267dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5550dup | ENSP00000417241.2:p.Thr1851HisfsTer28 | |
| ENST00000470026.6:c.5553dup | ENSP00000419274.2:p.Thr1852HisfsTer28 | |
| ENST00000473961.6:c.5427dup | ENSP00000420201.2:p.Thr1810HisfsTer28 | |
| ENST00000476777.6:c.5547dup | ENSP00000417554.2:p.Thr1850HisfsTer28 | |
| ENST00000477152.6:c.5475dup | ENSP00000419988.2:p.Thr1826HisfsTer28 | |
| ENST00000478531.6:c.2241dup | ENSP00000420412.2:p.Thr748HisfsTer28 | |
| ENST00000489037.2:c.5475dup | ENSP00000420781.2:p.Thr1826HisfsTer28 | |
| ENST00000493919.6:c.2103dup | ENSP00000418819.2:p.Thr702HisfsTer28 | |
| ENST00000494123.6:c.5553dup | ENSP00000419103.2:p.Thr1852HisfsTer28 | |
| ENST00000497488.2:c.4665dup | ENSP00000418986.2:p.Thr1556HisfsTer28 | |
| ENST00000618469.2:c.5553dup | ENSP00000478114.2:p.Thr1852HisfsTer28 | |
| ENST00000634433.2:c.5430dup | ENSP00000489431.2:p.Thr1811HisfsTer28 | |
| ENST00000644379.2:c.5619dup | ENSP00000496570.2:p.Thr1874HisfsTer28 | |
| ENST00000644555.2:c.2103dup | ENSP00000494614.2:p.Thr702HisfsTer28 | |
| ENST00000652672.2:c.5412dup | ENSP00000498906.2:p.Thr1805HisfsTer28 | |
| ENST00000484087.6:c.2115dup | ENSP00000419481.2:p.Thr706HisfsTer28 | |
| ENST00000700081.1:n.1436dup | ||
| ENST00000700082.1:n.917dup | ||
| ENST00000357654.9:c.5553dup MANE Select | ENSP00000350283.3:p.Thr1852HisfsTer28 | |
| ENST00000471181.7:c.5616dup | ENSP00000418960.2:p.Thr1873HisfsTer28 | |
| ENST00000644379.1:c.1940dup | ||
| ENST00000352993.7:c.2127dup | ENSP00000312236.5:p.Thr710HisfsTer28 | |
| ENST00000357654.7:c.5553dup | ENSP00000350283.3:p.Thr1852HisfsTer28 | |
| ENST00000461221.5:c.*5336dup | ENSP00000418548.1:n.*5336dup | |
| ENST00000468300.5:c.*67dup | ENSP00000417148.1:n.*67dup | |
| ENST00000471181.6:c.5616dup | ENSP00000418960.2:p.Thr1873HisfsTer28 | |
| ENST00000491747.6:c.2241dup | ENSP00000420705.2:p.Thr748HisfsTer? | |
| ENST00000493795.5:c.5412dup | ENSP00000418775.1:p.Thr1805HisfsTer28 | |
| ENST00000586385.5:c.483dup | ENSP00000465818.1:p.Thr162HisfsTer28 | |
| ENST00000591534.5:c.1026dup | ENSP00000467329.1:p.Thr343HisfsTer28 | |
| ENST00000591849.5:c.252dup | ENSP00000465347.1:p.Thr85HisfsTer28 | |
| NM_007294.3:c.5553dup , LRG_292t1:c.5553dup | NP_009225.1:p.Thr1852HisfsTer28 | |
| NM_007297.3:c.5412dup | NP_009228.2:p.Thr1805HisfsTer28 | |
| NM_007298.3:c.2241dup | NP_009229.2:p.Thr748HisfsTer28 | |
| NM_007299.3:c.*67dup | NP_009230.2:n.*67dup | |
| NM_007300.3:c.5616dup | NP_009231.2:p.Thr1873HisfsTer28 | |
| NR_027676.1:n.5689dup | ||
| NM_007294.4:c.5553dup MANE Select | NP_009225.1:p.Thr1852HisfsTer28 | |
| NM_007297.4:c.5412dup | NP_009228.2:p.Thr1805HisfsTer28 | |
| NM_007299.4:c.*67dup | NP_009230.2:n.*67dup | |
| NM_007300.4:c.5616dup | NP_009231.2:p.Thr1873HisfsTer28 | |
| NR_027676.2:n.5730dup |