Linked Data
ClinVar Variation Id:
125782
dbSNP Id:
rs8176259
gnomAD v2:
17-41215805-CA-C
gnomAD v3:
17-43063788-CA-C
gnomAD v4:
17-43063788-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063793del , CM000679.2:g.43063793del | GRCh38 |
| NC_000017.10:g.41215810del , CM000679.1:g.41215810del | GRCh37 |
| NC_000017.9:g.38469336del | NCBI36 |
| NG_005905.2:g.154195del , LRG_292:g.154195del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5149+85del | ENSP00000417241.2:n.5149+85del | |
| ENST00000470026.6:c.5152+85del | ENSP00000419274.2:n.5152+85del | |
| ENST00000473961.6:c.5026+85del | ENSP00000420201.2:n.5026+85del | |
| ENST00000476777.6:c.5146+85del | ENSP00000417554.2:n.5146+85del | |
| ENST00000477152.6:c.5074+85del | ENSP00000419988.2:n.5074+85del | |
| ENST00000478531.6:c.1840+85del | ENSP00000420412.2:n.1840+85del | |
| ENST00000489037.2:c.5074+85del | ENSP00000420781.2:n.5074+85del | |
| ENST00000493919.6:c.1702+85del | ENSP00000418819.2:n.1702+85del | |
| ENST00000494123.6:c.5152+85del | ENSP00000419103.2:n.5152+85del | |
| ENST00000497488.2:c.4264+85del | ENSP00000418986.2:n.4264+85del | |
| ENST00000618469.2:c.5152+85del | ENSP00000478114.2:n.5152+85del | |
| ENST00000634433.2:c.5029+85del | ENSP00000489431.2:n.5029+85del | |
| ENST00000644379.2:c.5218+85del | ENSP00000496570.2:n.5218+85del | |
| ENST00000644555.2:c.1702+85del | ENSP00000494614.2:n.1702+85del | |
| ENST00000652672.2:c.5011+85del | ENSP00000498906.2:n.5011+85del | |
| ENST00000484087.6:c.1714+85del | ENSP00000419481.2:n.1714+85del | |
| ENST00000357654.9:c.5152+85del MANE Select | ENSP00000350283.3:n.5152+85del | |
| ENST00000471181.7:c.5215+85del | ENSP00000418960.2:n.5215+85del | |
| ENST00000644379.1:c.1539+85del | ||
| ENST00000352993.7:c.1726+85del | ENSP00000312236.5:n.1726+85del | |
| ENST00000357654.7:c.5152+85del | ENSP00000350283.3:n.5152+85del | |
| ENST00000461221.5:c.*4935+85del | ENSP00000418548.1:n.*4935+85del | |
| ENST00000468300.5:c.1840+85del | ENSP00000417148.1:n.1840+85del | |
| ENST00000471181.6:c.5215+85del | ENSP00000418960.2:n.5215+85del | |
| ENST00000478531.5:c.1840+85del | ENSP00000420412.1:n.1840+85del | |
| ENST00000484087.5:c.1465+85del | ENSP00000419481.1:n.1465+85del | |
| ENST00000491747.6:c.1840+85del | ENSP00000420705.2:n.1840+85del | |
| ENST00000493795.5:c.5011+85del | ENSP00000418775.1:n.5011+85del | |
| ENST00000493919.5:c.1702+85del | ENSP00000418819.1:n.1702+85del | |
| ENST00000586385.5:c.82+85del | ENSP00000465818.1:n.82+85del | |
| ENST00000591534.5:c.625+85del | ENSP00000467329.1:n.625+85del | |
| ENST00000591849.5:c.-98-13599del | ENSP00000465347.1:n.-98-13599del | |
| NM_007294.3:c.5152+85del , LRG_292t1:c.5152+85del | NP_009225.1:n.5152+85del | |
| NM_007297.3:c.5011+85del | NP_009228.2:n.5011+85del | |
| NM_007298.3:c.1840+85del | NP_009229.2:n.1840+85del | |
| NM_007299.3:c.1840+85del | NP_009230.2:n.1840+85del | |
| NM_007300.3:c.5215+85del | NP_009231.2:n.5215+85del | |
| NR_027676.1:n.5288+85del | ||
| NM_007294.4:c.5152+85del MANE Select | NP_009225.1:n.5152+85del | |
| NM_007297.4:c.5011+85del | NP_009228.2:n.5011+85del | |
| NM_007299.4:c.1840+85del | NP_009230.2:n.1840+85del | |
| NM_007300.4:c.5215+85del | NP_009231.2:n.5215+85del | |
| NR_027676.2:n.5329+85del |