Linked Data
ClinVar Variation Id:
54336
ClinVar RCV Id:
RCV000111670
dbSNP Id:
rs80357834
PubMed:
PMID:11139249
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093802_43093803del , CM000679.2:g.43093802_43093803del | GRCh38 |
| NC_000017.10:g.41245819_41245820del , CM000679.1:g.41245819_41245820del | GRCh37 |
| NC_000017.9:g.38499345_38499346del | NCBI36 |
| NG_005905.2:g.124182_124183del , LRG_292:g.124182_124183del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1793_1794del | ||
| ENST00000461574.2:c.1729_1730del | ENSP00000417241.2:p.Glu577IlefsTer8 | |
| ENST00000470026.6:c.1729_1730del | ENSP00000419274.2:p.Glu577IlefsTer8 | |
| ENST00000473961.6:c.1603_1604del | ENSP00000420201.2:p.Glu535IlefsTer8 | |
| ENST00000476777.6:c.1726_1727del | ENSP00000417554.2:p.Glu576IlefsTer8 | |
| ENST00000477152.6:c.1651_1652del | ENSP00000419988.2:p.Glu551IlefsTer8 | |
| ENST00000478531.6:c.784+942_784+943del | ENSP00000420412.2:n.784+942_784+943del | |
| ENST00000489037.2:c.1651_1652del | ENSP00000420781.2:p.Glu551IlefsTer8 | |
| ENST00000493919.6:c.646+942_646+943del | ENSP00000418819.2:n.646+942_646+943del | |
| ENST00000494123.6:c.1729_1730del | ENSP00000419103.2:p.Glu577IlefsTer8 | |
| ENST00000497488.2:c.841_842del | ENSP00000418986.2:p.Glu281IlefsTer8 | |
| ENST00000618469.2:c.1729_1730del | ENSP00000478114.2:p.Glu577IlefsTer8 | |
| ENST00000634433.2:c.1606_1607del | ENSP00000489431.2:p.Glu536IlefsTer8 | |
| ENST00000644379.2:c.1729_1730del | ENSP00000496570.2:p.Glu577IlefsTer8 | |
| ENST00000644555.2:c.646+942_646+943del | ENSP00000494614.2:n.646+942_646+943del | |
| ENST00000652672.2:c.1588_1589del | ENSP00000498906.2:p.Glu530IlefsTer8 | |
| ENST00000484087.6:c.664+942_664+943del | ENSP00000419481.2:n.664+942_664+943del | |
| ENST00000700182.1:c.706+942_706+943del | ENSP00000514849.1:n.706+942_706+943del | |
| ENST00000357654.9:c.1729_1730del MANE Select | ENSP00000350283.3:p.Glu577IlefsTer8 | |
| ENST00000471181.7:c.1729_1730del | ENSP00000418960.2:p.Glu577IlefsTer8 | |
| ENST00000652672.1:c.1588_1589del | ENSP00000498906.1:p.Glu530IlefsTer8 | |
| ENST00000352993.7:c.670+2044_670+2045del | ENSP00000312236.5:n.670+2044_670+2045del | |
| ENST00000354071.7:c.1729_1730del | ENSP00000326002.7:p.Glu577IlefsTer8 | |
| ENST00000357654.7:c.1729_1730del | ENSP00000350283.3:p.Glu577IlefsTer8 | |
| ENST00000412061.3:c.1080_1081del | ||
| ENST00000461221.5:c.*1512_*1513del | ENSP00000418548.1:n.*1512_*1513del | |
| ENST00000468300.5:c.787+942_787+943del | ENSP00000417148.1:n.787+942_787+943del | |
| ENST00000470026.5:c.1729_1730del | ENSP00000419274.1:p.Glu577IlefsTer8 | |
| ENST00000471181.6:c.1729_1730del | ENSP00000418960.2:p.Glu577IlefsTer8 | |
| ENST00000477152.5:c.1651_1652del | ENSP00000419988.1:p.Glu551IlefsTer8 | |
| ENST00000478531.5:c.784+942_784+943del | ENSP00000420412.1:n.784+942_784+943del | |
| ENST00000484087.5:c.409+942_409+943del | ENSP00000419481.1:n.409+942_409+943del | |
| ENST00000487825.5:c.412+942_412+943del | ENSP00000418212.1:n.412+942_412+943del | |
| ENST00000491747.6:c.787+942_787+943del | ENSP00000420705.2:n.787+942_787+943del | |
| ENST00000493795.5:c.1588_1589del | ENSP00000418775.1:p.Glu530IlefsTer8 | |
| ENST00000493919.5:c.646+942_646+943del | ENSP00000418819.1:n.646+942_646+943del | |
| ENST00000586385.5:c.5-29851_5-29850del | ENSP00000465818.1:n.5-29851_5-29850del | |
| ENST00000591534.5:c.-43-19281_-43-19280del | ENSP00000467329.1:n.-43-19281_-43-19280de... | |
| ENST00000591849.5:c.-99+31469_-99+31470del | ENSP00000465347.1:n.-99+31469_-99+31470de... | |
| ENST00000634433.1:c.1606_1607del | ENSP00000489431.1:p.Glu536IlefsTer8 | |
| NM_007294.3:c.1729_1730del , LRG_292t1:c.1729_1730del | NP_009225.1:p.Glu577IlefsTer8 | |
| NM_007297.3:c.1588_1589del | NP_009228.2:p.Glu530IlefsTer8 | |
| NM_007298.3:c.787+942_787+943del | NP_009229.2:n.787+942_787+943del | |
| NM_007299.3:c.787+942_787+943del | NP_009230.2:n.787+942_787+943del | |
| NM_007300.3:c.1729_1730del | NP_009231.2:p.Glu577IlefsTer8 | |
| NR_027676.1:n.1865_1866del | ||
| NM_007294.4:c.1729_1730del MANE Select | NP_009225.1:p.Glu577IlefsTer8 | |
| NM_007297.4:c.1588_1589del | NP_009228.2:p.Glu530IlefsTer8 | |
| NM_007299.4:c.787+942_787+943del | NP_009230.2:n.787+942_787+943del | |
| NM_007300.4:c.1729_1730del | NP_009231.2:p.Glu577IlefsTer8 | |
| NR_027676.2:n.1906_1907del |