Linked Data
ClinVar Variation Id:
222899
ClinVar RCV Id:
RCV000208006
dbSNP Id:
rs869025213
MyVariant Identifiers:
chr17:g.41226375_41226376dupTT (hg19)
chr17:g.41226374_41226375insTT (hg19)
chr17:g.43074358_43074359dupTT (hg38)
chr17:g.43074357_43074358insTT (hg38)
PubMed:
PMID:28944232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074359_43074360dup , CM000679.2:g.43074359_43074360dup | GRCh38 |
| NC_000017.10:g.41226376_41226377dup , CM000679.1:g.41226376_41226377dup | GRCh37 |
| NC_000017.9:g.38479902_38479903dup | NCBI36 |
| NG_005905.2:g.143625_143626dup , LRG_292:g.143625_143626dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4644_4645dup | ENSP00000417241.2:p.Thr1549LysfsTer10 | |
| ENST00000470026.6:c.4647_4648dup | ENSP00000419274.2:p.Thr1550LysfsTer10 | |
| ENST00000473961.6:c.4521_4522dup | ENSP00000420201.2:p.Thr1508LysfsTer10 | |
| ENST00000476777.6:c.4641_4642dup | ENSP00000417554.2:p.Thr1548LysfsTer10 | |
| ENST00000477152.6:c.4569_4570dup | ENSP00000419988.2:p.Thr1524LysfsTer10 | |
| ENST00000478531.6:c.1335_1336dup | ENSP00000420412.2:p.Thr446LysfsTer10 | |
| ENST00000489037.2:c.4569_4570dup | ENSP00000420781.2:p.Thr1524LysfsTer10 | |
| ENST00000493919.6:c.1197_1198dup | ENSP00000418819.2:p.Thr400LysfsTer10 | |
| ENST00000494123.6:c.4647_4648dup | ENSP00000419103.2:p.Thr1550LysfsTer10 | |
| ENST00000497488.2:c.3759_3760dup | ENSP00000418986.2:p.Thr1254LysfsTer10 | |
| ENST00000618469.2:c.4647_4648dup | ENSP00000478114.2:p.Thr1550LysfsTer10 | |
| ENST00000634433.2:c.4524_4525dup | ENSP00000489431.2:p.Thr1509LysfsTer10 | |
| ENST00000644379.2:c.4713_4714dup | ENSP00000496570.2:p.Thr1572LysfsTer10 | |
| ENST00000644555.2:c.1197_1198dup | ENSP00000494614.2:p.Thr400LysfsTer10 | |
| ENST00000652672.2:c.4506_4507dup | ENSP00000498906.2:p.Thr1503LysfsTer10 | |
| ENST00000484087.6:c.1209_1210dup | ENSP00000419481.2:p.Thr404LysfsTer10 | |
| ENST00000700182.1:c.1254_1255dup | ENSP00000514849.1:p.Thr419LysfsTer10 | |
| ENST00000357654.9:c.4647_4648dup MANE Select | ENSP00000350283.3:p.Thr1550LysfsTer10 | |
| ENST00000471181.7:c.4710_4711dup | ENSP00000418960.2:p.Thr1571LysfsTer10 | |
| ENST00000644379.1:c.1034_1035dup | ||
| ENST00000352993.7:c.1221_1222dup | ENSP00000312236.5:p.Thr408LysfsTer10 | |
| ENST00000357654.7:c.4647_4648dup | ENSP00000350283.3:p.Thr1550LysfsTer10 | |
| ENST00000461221.5:c.*4430_*4431dup | ENSP00000418548.1:n.*4430_*4431dup | |
| ENST00000468300.5:c.1335_1336dup | ENSP00000417148.1:p.Thr446LysfsTer10 | |
| ENST00000471181.6:c.4710_4711dup | ENSP00000418960.2:p.Thr1571LysfsTer10 | |
| ENST00000478531.5:c.1335_1336dup | ENSP00000420412.1:p.Thr446LysfsTer10 | |
| ENST00000484087.5:c.960_961dup | ENSP00000419481.1:p.Thr321LysfsTer10 | |
| ENST00000491747.6:c.1335_1336dup | ENSP00000420705.2:p.Thr446LysfsTer10 | |
| ENST00000493795.5:c.4506_4507dup | ENSP00000418775.1:p.Thr1503LysfsTer10 | |
| ENST00000493919.5:c.1197_1198dup | ENSP00000418819.1:p.Thr400LysfsTer10 | |
| ENST00000586385.5:c.5-10408_5-10407dup | ENSP00000465818.1:n.5-10408_5-10407dup | |
| ENST00000591534.5:c.120_121dup | ENSP00000467329.1:p.Thr41LysfsTer10 | |
| ENST00000591849.5:c.-98-24169_-98-24168dup | ENSP00000465347.1:n.-98-24169_-98-24168du... | |
| NM_007294.3:c.4647_4648dup , LRG_292t1:c.4647_4648dup | NP_009225.1:p.Thr1550LysfsTer10 | |
| NM_007297.3:c.4506_4507dup | NP_009228.2:p.Thr1503LysfsTer10 | |
| NM_007298.3:c.1335_1336dup | NP_009229.2:p.Thr446LysfsTer10 | |
| NM_007299.3:c.1335_1336dup | NP_009230.2:p.Thr446LysfsTer10 | |
| NM_007300.3:c.4710_4711dup | NP_009231.2:p.Thr1571LysfsTer10 | |
| NR_027676.1:n.4783_4784dup | ||
| NM_007294.4:c.4647_4648dup MANE Select | NP_009225.1:p.Thr1550LysfsTer10 | |
| NM_007297.4:c.4506_4507dup | NP_009228.2:p.Thr1503LysfsTer10 | |
| NM_007299.4:c.1335_1336dup | NP_009230.2:p.Thr446LysfsTer10 | |
| NM_007300.4:c.4710_4711dup | NP_009231.2:p.Thr1571LysfsTer10 | |
| NR_027676.2:n.4824_4825dup |