Linked Data
ClinVar Variation Id:
1311951
ClinVar RCV Id:
RCV001761172
dbSNP Id:
rs2151746376
gnomAD v4:
19-35033530-TGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35033537_35033539del , CM000681.2:g.35033537_35033539del | GRCh38 |
| NC_000019.9:g.35524441_35524443del , CM000681.1:g.35524441_35524443del | GRCh37 |
| NC_000019.8:g.40216281_40216283del | NCBI36 |
| NG_013359.1:g.7850_7852del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415950.5:c.246_248del | ENSP00000396915.2:p.Glu82del | |
| ENST00000262631.11:c.246_248del MANE Select | ENSP00000262631.3:p.Glu82del | |
| ENST00000415950.4:c.246_248del | ENSP00000396915.2:p.Glu82del | |
| ENST00000596348.2:c.147_149del | ENSP00000492247.1:p.Glu49del | |
| ENST00000638536.1:c.246_248del | ENSP00000492022.1:p.Glu82del | |
| ENST00000640135.1:c.147_149del | ENSP00000492655.1:p.Glu49del | |
| ENST00000675741.1:c.147_149del | ENSP00000502395.1:p.Glu49del | |
| ENST00000676410.1:c.147_149del | ENSP00000502717.1:p.Glu49del | |
| ENST00000262631.9:c.246_248del | ENSP00000262631.3:p.Glu82del | |
| ENST00000415950.3:c.246_248del | ENSP00000396915.2:p.Glu82del | |
| ENST00000595652.5:c.208-175_208-173del | ENSP00000468848.1:n.208-175_208-173del | |
| ENST00000596348.1:n.255_257del | ||
| NM_001037.4:c.246_248del | NP_001028.1:p.Glu82del | |
| NM_199037.3:c.246_248del | NP_950238.1:p.Glu82del | |
| XM_005259144.1:c.147_149del | XP_005259201.1:p.Glu49del | |
| NM_001321605.1:c.147_149del | NP_001308534.1:p.Glu49del | |
| NM_199037.4:c.246_248del | NP_950238.1:p.Glu82del | |
| NM_001037.5:c.246_248del MANE Select | NP_001028.1:p.Glu82del | |
| NM_001321605.2:c.147_149del | NP_001308534.1:p.Glu49del | |
| NM_199037.5:c.246_248del | NP_950238.1:p.Glu82del |