Linked Data
ClinVar Variation Id:
55372
ClinVar RCV Id:
RCV000112481
dbSNP Id:
rs80357672
gnomAD v4:
17-43067610-G-GT
MyVariant Identifiers:
chr17:g.41219628dupT (hg19)
chr17:g.41219627_41219628insT (hg19)
chr17:g.43067611dupT (hg38)
chr17:g.43067610_43067611insT (hg38)
PubMed:
PMID:21120943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067614dup , CM000679.2:g.43067614dup | GRCh38 |
| NC_000017.10:g.41219631dup , CM000679.1:g.41219631dup | GRCh37 |
| NC_000017.9:g.38473157dup | NCBI36 |
| NG_005905.2:g.150373dup , LRG_292:g.150373dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5068dup | ENSP00000417241.2:p.Thr1690AsnfsTer4 | |
| ENST00000470026.6:c.5071dup | ENSP00000419274.2:p.Thr1691AsnfsTer4 | |
| ENST00000473961.6:c.4945dup | ENSP00000420201.2:p.Thr1649AsnfsTer4 | |
| ENST00000476777.6:c.5065dup | ENSP00000417554.2:p.Thr1689AsnfsTer4 | |
| ENST00000477152.6:c.4993dup | ENSP00000419988.2:p.Thr1665AsnfsTer4 | |
| ENST00000478531.6:c.1759dup | ENSP00000420412.2:p.Thr587AsnfsTer4 | |
| ENST00000489037.2:c.4993dup | ENSP00000420781.2:p.Thr1665AsnfsTer4 | |
| ENST00000493919.6:c.1621dup | ENSP00000418819.2:p.Thr541AsnfsTer4 | |
| ENST00000494123.6:c.5071dup | ENSP00000419103.2:p.Thr1691AsnfsTer4 | |
| ENST00000497488.2:c.4183dup | ENSP00000418986.2:p.Thr1395AsnfsTer4 | |
| ENST00000618469.2:c.5071dup | ENSP00000478114.2:p.Thr1691AsnfsTer4 | |
| ENST00000634433.2:c.4948dup | ENSP00000489431.2:p.Thr1650AsnfsTer4 | |
| ENST00000644379.2:c.5137dup | ENSP00000496570.2:p.Thr1713AsnfsTer4 | |
| ENST00000644555.2:c.1621dup | ENSP00000494614.2:p.Thr541AsnfsTer4 | |
| ENST00000652672.2:c.4930dup | ENSP00000498906.2:p.Thr1644AsnfsTer4 | |
| ENST00000484087.6:c.1633dup | ENSP00000419481.2:p.Thr545AsnfsTer4 | |
| ENST00000357654.9:c.5071dup MANE Select | ENSP00000350283.3:p.Thr1691AsnfsTer4 | |
| ENST00000471181.7:c.5134dup | ENSP00000418960.2:p.Thr1712AsnfsTer4 | |
| ENST00000644379.1:c.1458dup | ||
| ENST00000352993.7:c.1645dup | ENSP00000312236.5:p.Thr549AsnfsTer4 | |
| ENST00000357654.7:c.5071dup | ENSP00000350283.3:p.Thr1691AsnfsTer4 | |
| ENST00000461221.5:c.*4854dup | ENSP00000418548.1:n.*4854dup | |
| ENST00000468300.5:c.1759dup | ENSP00000417148.1:p.Thr587AsnfsTer4 | |
| ENST00000471181.6:c.5134dup | ENSP00000418960.2:p.Thr1712AsnfsTer4 | |
| ENST00000472490.1:n.224dup | ||
| ENST00000478531.5:c.1759dup | ENSP00000420412.1:p.Thr587AsnfsTer4 | |
| ENST00000484087.5:c.1384dup | ENSP00000419481.1:p.Thr462AsnfsTer4 | |
| ENST00000491747.6:c.1759dup | ENSP00000420705.2:p.Thr587AsnfsTer4 | |
| ENST00000493795.5:c.4930dup | ENSP00000418775.1:p.Thr1644AsnfsTer4 | |
| ENST00000493919.5:c.1621dup | ENSP00000418819.1:p.Thr541AsnfsTer4 | |
| ENST00000586385.5:c.5-3660dup | ENSP00000465818.1:n.5-3660dup | |
| ENST00000591534.5:c.544dup | ENSP00000467329.1:p.Thr182AsnfsTer4 | |
| ENST00000591849.5:c.-98-17421dup | ENSP00000465347.1:n.-98-17421dup | |
| NM_007294.3:c.5071dup , LRG_292t1:c.5071dup | NP_009225.1:p.Thr1691AsnfsTer4 | |
| NM_007297.3:c.4930dup | NP_009228.2:p.Thr1644AsnfsTer4 | |
| NM_007298.3:c.1759dup | NP_009229.2:p.Thr587AsnfsTer4 | |
| NM_007299.3:c.1759dup | NP_009230.2:p.Thr587AsnfsTer4 | |
| NM_007300.3:c.5134dup | NP_009231.2:p.Thr1712AsnfsTer4 | |
| NR_027676.1:n.5207dup | ||
| NM_007294.4:c.5071dup MANE Select | NP_009225.1:p.Thr1691AsnfsTer4 | |
| NM_007297.4:c.4930dup | NP_009228.2:p.Thr1644AsnfsTer4 | |
| NM_007299.4:c.1759dup | NP_009230.2:p.Thr587AsnfsTer4 | |
| NM_007300.4:c.5134dup | NP_009231.2:p.Thr1712AsnfsTer4 | |
| NR_027676.2:n.5248dup |