Linked Data
ClinVar Variation Id:
37623
ClinVar RCV Id:
RCV000031204
RCV000048741
RCV000162882
RCV000236835
RCV000240792
RCV000735512
RCV001353650
RCV002490431
RCV002513283
RCV003162264
dbSNP Id:
rs80357580
gnomAD v3:
17-43067648-ATTAG-A
gnomAD v4:
17-43067648-ATTAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067652_43067655del , CM000679.2:g.43067652_43067655del | GRCh38 |
| NC_000017.10:g.41219669_41219672del , CM000679.1:g.41219669_41219672del | GRCh37 |
| NC_000017.9:g.38473195_38473198del | NCBI36 |
| NG_005905.2:g.150332_150335del , LRG_292:g.150332_150335del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5027_5030del | ENSP00000417241.2:p.Thr1676IlefsTer2 | |
| ENST00000470026.6:c.5030_5033del | ENSP00000419274.2:p.Thr1677IlefsTer2 | |
| ENST00000473961.6:c.4904_4907del | ENSP00000420201.2:p.Thr1635IlefsTer2 | |
| ENST00000476777.6:c.5024_5027del | ENSP00000417554.2:p.Thr1675IlefsTer2 | |
| ENST00000477152.6:c.4952_4955del | ENSP00000419988.2:p.Thr1651IlefsTer2 | |
| ENST00000478531.6:c.1718_1721del | ENSP00000420412.2:p.Thr573IlefsTer2 | |
| ENST00000489037.2:c.4952_4955del | ENSP00000420781.2:p.Thr1651IlefsTer2 | |
| ENST00000493919.6:c.1580_1583del | ENSP00000418819.2:p.Thr527IlefsTer2 | |
| ENST00000494123.6:c.5030_5033del | ENSP00000419103.2:p.Thr1677IlefsTer2 | |
| ENST00000497488.2:c.4142_4145del | ENSP00000418986.2:p.Thr1381IlefsTer2 | |
| ENST00000618469.2:c.5030_5033del | ENSP00000478114.2:p.Thr1677IlefsTer2 | |
| ENST00000634433.2:c.4907_4910del | ENSP00000489431.2:p.Thr1636IlefsTer2 | |
| ENST00000644379.2:c.5096_5099del | ENSP00000496570.2:p.Thr1699IlefsTer2 | |
| ENST00000644555.2:c.1580_1583del | ENSP00000494614.2:p.Thr527IlefsTer2 | |
| ENST00000652672.2:c.4889_4892del | ENSP00000498906.2:p.Thr1630IlefsTer2 | |
| ENST00000484087.6:c.1592_1595del | ENSP00000419481.2:p.Thr531IlefsTer2 | |
| ENST00000357654.9:c.5030_5033del MANE Select | ENSP00000350283.3:p.Thr1677IlefsTer2 | |
| ENST00000471181.7:c.5093_5096del | ENSP00000418960.2:p.Thr1698IlefsTer2 | |
| ENST00000644379.1:c.1417_1420del | ||
| ENST00000352993.7:c.1604_1607del | ENSP00000312236.5:p.Thr535IlefsTer2 | |
| ENST00000357654.7:c.5030_5033del | ENSP00000350283.3:p.Thr1677IlefsTer2 | |
| ENST00000461221.5:c.*4813_*4816del | ENSP00000418548.1:n.*4813_*4816del | |
| ENST00000468300.5:c.1718_1721del | ENSP00000417148.1:p.Thr573IlefsTer2 | |
| ENST00000471181.6:c.5093_5096del | ENSP00000418960.2:p.Thr1698IlefsTer2 | |
| ENST00000472490.1:n.183_186del | ||
| ENST00000478531.5:c.1718_1721del | ENSP00000420412.1:p.Thr573IlefsTer2 | |
| ENST00000484087.5:c.1343_1346del | ENSP00000419481.1:p.Thr448IlefsTer2 | |
| ENST00000491747.6:c.1718_1721del | ENSP00000420705.2:p.Thr573IlefsTer2 | |
| ENST00000493795.5:c.4889_4892del | ENSP00000418775.1:p.Thr1630IlefsTer2 | |
| ENST00000493919.5:c.1580_1583del | ENSP00000418819.1:p.Thr527IlefsTer2 | |
| ENST00000586385.5:c.5-3701_5-3698del | ENSP00000465818.1:n.5-3701_5-3698del | |
| ENST00000591534.5:c.503_506del | ENSP00000467329.1:p.Thr168IlefsTer2 | |
| ENST00000591849.5:c.-98-17462_-98-17459del | ENSP00000465347.1:n.-98-17462_-98-17459del | |
| NM_007294.3:c.5030_5033del , LRG_292t1:c.5030_5033del | NP_009225.1:p.Thr1677IlefsTer2 | |
| NM_007297.3:c.4889_4892del | NP_009228.2:p.Thr1630IlefsTer2 | |
| NM_007298.3:c.1718_1721del | NP_009229.2:p.Thr573IlefsTer2 | |
| NM_007299.3:c.1718_1721del | NP_009230.2:p.Thr573IlefsTer2 | |
| NM_007300.3:c.5093_5096del | NP_009231.2:p.Thr1698IlefsTer2 | |
| NR_027676.1:n.5166_5169del | ||
| NM_007294.4:c.5030_5033del MANE Select | NP_009225.1:p.Thr1677IlefsTer2 | |
| NM_007297.4:c.4889_4892del | NP_009228.2:p.Thr1630IlefsTer2 | |
| NM_007299.4:c.1718_1721del | NP_009230.2:p.Thr573IlefsTer2 | |
| NM_007300.4:c.5093_5096del | NP_009231.2:p.Thr1698IlefsTer2 | |
| NR_027676.2:n.5207_5210del |