Linked Data
ClinVar Variation Id:
254468
ClinVar RCV Id:
RCV000240994
dbSNP Id:
rs760188581
ExAC:
17:41201177 AG / A
gnomAD v2:
17-41201177-AG-A
gnomAD v4:
17-43049160-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049161del , CM000679.2:g.43049161del | GRCh38 |
| NC_000017.10:g.41201178del , CM000679.1:g.41201178del | GRCh37 |
| NC_000017.9:g.38454704del | NCBI36 |
| NG_005905.2:g.168823del , LRG_292:g.168823del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5363del | ENSP00000417241.2:p.Ala1788ValfsTer4 | |
| ENST00000470026.6:c.5366del | ENSP00000419274.2:p.Ala1789ValfsTer4 | |
| ENST00000473961.6:c.5240del | ENSP00000420201.2:p.Ala1747ValfsTer4 | |
| ENST00000476777.6:c.5360del | ENSP00000417554.2:p.Ala1787ValfsTer4 | |
| ENST00000477152.6:c.5288del | ENSP00000419988.2:p.Ala1763ValfsTer4 | |
| ENST00000478531.6:c.2054del | ENSP00000420412.2:p.Ala685ValfsTer4 | |
| ENST00000489037.2:c.5288del | ENSP00000420781.2:p.Ala1763ValfsTer4 | |
| ENST00000493919.6:c.1916del | ENSP00000418819.2:p.Ala639ValfsTer4 | |
| ENST00000494123.6:c.5366del | ENSP00000419103.2:p.Ala1789ValfsTer4 | |
| ENST00000497488.2:c.4478del | ENSP00000418986.2:p.Ala1493ValfsTer4 | |
| ENST00000618469.2:c.5366del | ENSP00000478114.2:p.Ala1789ValfsTer4 | |
| ENST00000634433.2:c.5243del | ENSP00000489431.2:p.Ala1748ValfsTer4 | |
| ENST00000644379.2:c.5432del | ENSP00000496570.2:p.Ala1811ValfsTer4 | |
| ENST00000644555.2:c.1916del | ENSP00000494614.2:p.Ala639ValfsTer4 | |
| ENST00000652672.2:c.5225del | ENSP00000498906.2:p.Ala1742ValfsTer4 | |
| ENST00000484087.6:c.1928del | ENSP00000419481.2:p.Ala643ValfsTer4 | |
| ENST00000700081.1:n.1249del | ||
| ENST00000357654.9:c.5366del MANE Select | ENSP00000350283.3:p.Ala1789ValfsTer4 | |
| ENST00000471181.7:c.5429del | ENSP00000418960.2:p.Ala1810ValfsTer4 | |
| ENST00000644379.1:c.1753del | ||
| ENST00000352993.7:c.1940del | ENSP00000312236.5:p.Ala647ValfsTer4 | |
| ENST00000357654.7:c.5366del | ENSP00000350283.3:p.Ala1789ValfsTer4 | |
| ENST00000461221.5:c.*5149del | ENSP00000418548.1:n.*5149del | |
| ENST00000468300.5:c.2021-1458del | ENSP00000417148.1:n.2021-1458del | |
| ENST00000471181.6:c.5429del | ENSP00000418960.2:p.Ala1810ValfsTer4 | |
| ENST00000491747.6:c.2054del | ENSP00000420705.2:p.Ala685ValfsTer4 | |
| ENST00000493795.5:c.5225del | ENSP00000418775.1:p.Ala1742ValfsTer4 | |
| ENST00000586385.5:c.296del | ENSP00000465818.1:p.Ala99ValfsTer4 | |
| ENST00000591534.5:c.839del | ENSP00000467329.1:p.Ala280ValfsTer4 | |
| ENST00000591849.5:c.65del | ENSP00000465347.1:p.Ala22ValfsTer4 | |
| NM_007294.3:c.5366del , LRG_292t1:c.5366del | NP_009225.1:p.Ala1789ValfsTer4 | |
| NM_007297.3:c.5225del | NP_009228.2:p.Ala1742ValfsTer4 | |
| NM_007298.3:c.2054del | NP_009229.2:p.Ala685ValfsTer4 | |
| NM_007299.3:c.2021-1458del | NP_009230.2:n.2021-1458del | |
| NM_007300.3:c.5429del | NP_009231.2:p.Ala1810ValfsTer4 | |
| NR_027676.1:n.5502del | ||
| NM_007294.4:c.5366del MANE Select | NP_009225.1:p.Ala1789ValfsTer4 | |
| NM_007297.4:c.5225del | NP_009228.2:p.Ala1742ValfsTer4 | |
| NM_007299.4:c.2021-1458del | NP_009230.2:n.2021-1458del | |
| NM_007300.4:c.5429del | NP_009231.2:p.Ala1810ValfsTer4 | |
| NR_027676.2:n.5543del |