Linked Data
ClinVar Variation Id:
55664
ClinVar RCV Id:
RCV000577618
dbSNP Id:
rs397509307
PubMed:
PMID:12894890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094853_43094854insG , CM000679.2:g.43094853_43094854insG | GRCh38 |
| NC_000017.10:g.41246870_41246871insG , CM000679.1:g.41246870_41246871insG | GRCh37 |
| NC_000017.9:g.38500396_38500397insG | NCBI36 |
| NG_005905.2:g.123130_123131insC , LRG_292:g.123130_123131insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.741_742insC | ||
| ENST00000461574.2:c.677_678insC | ENSP00000417241.2:p.Glu227Ter | |
| ENST00000470026.6:c.677_678insC | ENSP00000419274.2:p.Glu227Ter | |
| ENST00000473961.6:c.551_552insC | ENSP00000420201.2:p.Glu185Ter | |
| ENST00000476777.6:c.674_675insC | ENSP00000417554.2:p.Glu226Ter | |
| ENST00000477152.6:c.599_600insC | ENSP00000419988.2:p.Glu201Ter | |
| ENST00000478531.6:c.674_675insC | ENSP00000420412.2:p.Glu226Ter | |
| ENST00000489037.2:c.599_600insC | ENSP00000420781.2:p.Glu201Ter | |
| ENST00000493919.6:c.536_537insC | ENSP00000418819.2:p.Glu180Ter | |
| ENST00000494123.6:c.677_678insC | ENSP00000419103.2:p.Glu227Ter | |
| ENST00000497488.2:c.-212_-211insC | ENSP00000418986.2:n.-212_-211insC | |
| ENST00000618469.2:c.677_678insC | ENSP00000478114.2:p.Glu227Ter | |
| ENST00000634433.2:c.554_555insC | ENSP00000489431.2:p.Glu186Ter | |
| ENST00000644379.2:c.677_678insC | ENSP00000496570.2:p.Glu227Ter | |
| ENST00000644555.2:c.536_537insC | ENSP00000494614.2:p.Glu180Ter | |
| ENST00000652672.2:c.536_537insC | ENSP00000498906.2:p.Glu180Ter | |
| ENST00000484087.6:c.554_555insC | ENSP00000419481.2:p.Glu186Ter | |
| ENST00000700182.1:c.596_597insC | ENSP00000514849.1:p.Glu200Ter | |
| ENST00000700183.1:c.*685_*686insC | ENSP00000514850.1:n.*685_*686insC | |
| ENST00000357654.9:c.677_678insC MANE Select | ENSP00000350283.3:p.Glu227Ter | |
| ENST00000471181.7:c.677_678insC | ENSP00000418960.2:p.Glu227Ter | |
| ENST00000642945.1:c.*551_*552insC | ENSP00000495897.1:n.*551_*552insC | |
| ENST00000652672.1:c.536_537insC | ENSP00000498906.1:p.Glu180Ter | |
| ENST00000352993.7:c.670+992_670+993insC | ENSP00000312236.5:n.670+992_670+993insC | |
| ENST00000354071.7:c.677_678insC | ENSP00000326002.7:p.Glu227Ter | |
| ENST00000357654.7:c.677_678insC | ENSP00000350283.3:p.Glu227Ter | |
| ENST00000412061.3:c.28_29insC | ||
| ENST00000461221.5:c.*460_*461insC | ENSP00000418548.1:n.*460_*461insC | |
| ENST00000468300.5:c.677_678insC | ENSP00000417148.1:p.Glu227Ter | |
| ENST00000470026.5:c.677_678insC | ENSP00000419274.1:p.Glu227Ter | |
| ENST00000471181.6:c.677_678insC | ENSP00000418960.2:p.Glu227Ter | |
| ENST00000473961.5:c.274_275insC | ||
| ENST00000477152.5:c.599_600insC | ENSP00000419988.1:p.Glu201Ter | |
| ENST00000478531.5:c.674_675insC | ENSP00000420412.1:p.Glu226Ter | |
| ENST00000484087.5:c.299_300insC | ENSP00000419481.1:p.Glu101Ter | |
| ENST00000487825.5:c.302_303insC | ENSP00000418212.1:p.Glu102Ter | |
| ENST00000491747.6:c.677_678insC | ENSP00000420705.2:p.Glu227Ter | |
| ENST00000492859.5:c.*613_*614insC | ENSP00000420253.1:n.*613_*614insC | |
| ENST00000493795.5:c.536_537insC | ENSP00000418775.1:p.Glu180Ter | |
| ENST00000493919.5:c.536_537insC | ENSP00000418819.1:p.Glu180Ter | |
| ENST00000494123.5:c.677_678insC | ENSP00000419103.1:p.Glu227Ter | |
| ENST00000497488.1:c.-212_-211insC | ENSP00000418986.1:n.-212_-211insC | |
| ENST00000586385.5:c.4+30328_4+30329insC | ENSP00000465818.1:n.4+30328_4+30329insC | |
| ENST00000591534.5:c.-43-20333_-43-20332insC | ENSP00000467329.1:n.-43-20333_-43-20332in... | |
| ENST00000591849.5:c.-99+30417_-99+30418insC | ENSP00000465347.1:n.-99+30417_-99+30418in... | |
| ENST00000634433.1:c.554_555insC | ENSP00000489431.1:p.Glu186Ter | |
| NM_007294.3:c.677_678insC , LRG_292t1:c.677_678insC | NP_009225.1:p.Glu227Ter | |
| NM_007297.3:c.536_537insC | NP_009228.2:p.Glu180Ter | |
| NM_007298.3:c.677_678insC | NP_009229.2:p.Glu227Ter | |
| NM_007299.3:c.677_678insC | NP_009230.2:p.Glu227Ter | |
| NM_007300.3:c.677_678insC | NP_009231.2:p.Glu227Ter | |
| NR_027676.1:n.813_814insC | ||
| NM_007294.4:c.677_678insC MANE Select | NP_009225.1:p.Glu227Ter | |
| NM_007297.4:c.536_537insC | NP_009228.2:p.Glu180Ter | |
| NM_007299.4:c.677_678insC | NP_009230.2:p.Glu227Ter | |
| NM_007300.4:c.677_678insC | NP_009231.2:p.Glu227Ter | |
| NR_027676.2:n.854_855insC |