Linked Data
ClinVar Variation Id:
54723
dbSNP Id:
rs397509025
MyVariant Identifiers:
chr17:g.41244618_41244619dupGG (hg19)
chr17:g.41244617_41244618insGG (hg19)
chr17:g.43092601_43092602dupGG (hg38)
chr17:g.43092600_43092601insGG (hg38)
PubMed:
PMID:16683254
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092602_43092603dup , CM000679.2:g.43092602_43092603dup | GRCh38 |
| NC_000017.10:g.41244619_41244620dup , CM000679.1:g.41244619_41244620dup | GRCh37 |
| NC_000017.9:g.38498145_38498146dup | NCBI36 |
| NG_005905.2:g.125382_125383dup , LRG_292:g.125382_125383dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.2993_2994dup | ||
| ENST00000461574.2:c.2929_2930dup | ENSP00000417241.2:p.Tyr978HisfsTer23 | |
| ENST00000470026.6:c.2929_2930dup | ENSP00000419274.2:p.Tyr978HisfsTer23 | |
| ENST00000473961.6:c.2803_2804dup | ENSP00000420201.2:p.Tyr936HisfsTer23 | |
| ENST00000476777.6:c.2926_2927dup | ENSP00000417554.2:p.Tyr977HisfsTer23 | |
| ENST00000477152.6:c.2851_2852dup | ENSP00000419988.2:p.Tyr952HisfsTer23 | |
| ENST00000478531.6:c.785-1570_785-1569dup | ENSP00000420412.2:n.785-1570_785-1569dup | |
| ENST00000489037.2:c.2851_2852dup | ENSP00000420781.2:p.Tyr952HisfsTer23 | |
| ENST00000493919.6:c.647-1570_647-1569dup | ENSP00000418819.2:n.647-1570_647-1569dup | |
| ENST00000494123.6:c.2929_2930dup | ENSP00000419103.2:p.Tyr978HisfsTer23 | |
| ENST00000497488.2:c.2041_2042dup | ENSP00000418986.2:p.Tyr682HisfsTer23 | |
| ENST00000618469.2:c.2929_2930dup | ENSP00000478114.2:p.Tyr978HisfsTer23 | |
| ENST00000634433.2:c.2806_2807dup | ENSP00000489431.2:p.Tyr937HisfsTer23 | |
| ENST00000644379.2:c.2929_2930dup | ENSP00000496570.2:p.Tyr978HisfsTer23 | |
| ENST00000644555.2:c.647-1570_647-1569dup | ENSP00000494614.2:n.647-1570_647-1569dup | |
| ENST00000652672.2:c.2788_2789dup | ENSP00000498906.2:p.Tyr931HisfsTer23 | |
| ENST00000484087.6:c.665-1570_665-1569dup | ENSP00000419481.2:n.665-1570_665-1569dup | |
| ENST00000700182.1:c.707-1570_707-1569dup | ENSP00000514849.1:n.707-1570_707-1569dup | |
| ENST00000357654.9:c.2929_2930dup MANE Select | ENSP00000350283.3:p.Tyr978HisfsTer23 | |
| ENST00000471181.7:c.2929_2930dup | ENSP00000418960.2:p.Tyr978HisfsTer23 | |
| ENST00000352993.7:c.671-1570_671-1569dup | ENSP00000312236.5:n.671-1570_671-1569dup | |
| ENST00000354071.7:c.2929_2930dup | ENSP00000326002.7:p.Tyr978HisfsTer23 | |
| ENST00000357654.7:c.2929_2930dup | ENSP00000350283.3:p.Tyr978HisfsTer23 | |
| ENST00000461221.5:c.*2712_*2713dup | ENSP00000418548.1:n.*2712_*2713dup | |
| ENST00000468300.5:c.788-1570_788-1569dup | ENSP00000417148.1:n.788-1570_788-1569dup | |
| ENST00000471181.6:c.2929_2930dup | ENSP00000418960.2:p.Tyr978HisfsTer23 | |
| ENST00000478531.5:c.785-1570_785-1569dup | ENSP00000420412.1:n.785-1570_785-1569dup | |
| ENST00000484087.5:c.410-1570_410-1569dup | ENSP00000419481.1:n.410-1570_410-1569dup | |
| ENST00000487825.5:c.413-1570_413-1569dup | ENSP00000418212.1:n.413-1570_413-1569dup | |
| ENST00000491747.6:c.788-1570_788-1569dup | ENSP00000420705.2:n.788-1570_788-1569dup | |
| ENST00000493795.5:c.2788_2789dup | ENSP00000418775.1:p.Tyr931HisfsTer23 | |
| ENST00000493919.5:c.647-1570_647-1569dup | ENSP00000418819.1:n.647-1570_647-1569dup | |
| ENST00000586385.5:c.5-28651_5-28650dup | ENSP00000465818.1:n.5-28651_5-28650dup | |
| ENST00000591534.5:c.-43-18081_-43-18080dup | ENSP00000467329.1:n.-43-18081_-43-18080du... | |
| ENST00000591849.5:c.-99+32669_-99+32670dup | ENSP00000465347.1:n.-99+32669_-99+32670du... | |
| NM_007294.3:c.2929_2930dup , LRG_292t1:c.2929_2930dup | NP_009225.1:p.Tyr978HisfsTer23 | |
| NM_007297.3:c.2788_2789dup | NP_009228.2:p.Tyr931HisfsTer23 | |
| NM_007298.3:c.788-1570_788-1569dup | NP_009229.2:n.788-1570_788-1569dup | |
| NM_007299.3:c.788-1570_788-1569dup | NP_009230.2:n.788-1570_788-1569dup | |
| NM_007300.3:c.2929_2930dup | NP_009231.2:p.Tyr978HisfsTer23 | |
| NR_027676.1:n.3065_3066dup | ||
| NM_007294.4:c.2929_2930dup MANE Select | NP_009225.1:p.Tyr978HisfsTer23 | |
| NM_007297.4:c.2788_2789dup | NP_009228.2:p.Tyr931HisfsTer23 | |
| NM_007299.4:c.788-1570_788-1569dup | NP_009230.2:n.788-1570_788-1569dup | |
| NM_007300.4:c.2929_2930dup | NP_009231.2:p.Tyr978HisfsTer23 | |
| NR_027676.2:n.3106_3107dup |