Linked Data
ClinVar Variation Id:
371481
ClinVar RCV Id:
RCV000411712
dbSNP Id:
rs763359208
ExAC:
17:78093082 CTG / C
gnomAD v2:
17-78093082-CTG-C
gnomAD v4:
17-80119283-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80119287_80119288del , CM000679.2:g.80119287_80119288del | GRCh38 |
| NC_000017.10:g.78093086_78093087del , CM000679.1:g.78093086_78093087del | GRCh37 |
| NC_000017.9:g.75707681_75707682del | NCBI36 |
| NG_009822.1:g.22732_22733del , LRG_673:g.22732_22733del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2815_2816del | ENSP00000460543.2:p.Val939LeufsTer? | |
| ENST00000572080.2:c.*953_*954del | ENSP00000459972.2:n.*953_*954del | |
| ENST00000577106.6:c.2815_2816del | ENSP00000458306.2:p.Val939LeufsTer? | |
| ENST00000302262.8:c.2815_2816del MANE Select | ENSP00000305692.3:p.Val939LeufsTer? | |
| ENST00000302262.7:c.2815_2816del | ENSP00000305692.3:p.Val939LeufsTer? | |
| ENST00000390015.7:c.2815_2816del | ENSP00000374665.3:p.Val939LeufsTer? | |
| NM_000152.3:c.2815_2816del , LRG_673t1:c.2815_2816del | NP_000143.2:p.Val939LeufsTer? | |
| NM_001079803.1:c.2815_2816del | NP_001073271.1:p.Val939LeufsTer? | |
| NM_001079804.1:c.2815_2816del | NP_001073272.1:p.Val939LeufsTer? | |
| XM_005257193.1:c.2815_2816del | XP_005257250.1:p.Val939LeufsTer? | |
| XM_005257194.3:c.2815_2816del | XP_005257251.1:p.Val939LeufsTer? | |
| NM_000152.4:c.2815_2816del | NP_000143.2:p.Val939LeufsTer? | |
| NM_001079803.2:c.2815_2816del | NP_001073271.1:p.Val939LeufsTer? | |
| NM_001079804.2:c.2815_2816del | NP_001073272.1:p.Val939LeufsTer? | |
| XM_005257193.2:c.2815_2816del | XP_005257250.1:p.Val939LeufsTer? | |
| XM_005257194.4:c.2815_2816del | XP_005257251.1:p.Val939LeufsTer? | |
| NM_000152.5:c.2815_2816del MANE Select | NP_000143.2:p.Val939LeufsTer? | |
| NM_001079803.3:c.2815_2816del | NP_001073271.1:p.Val939LeufsTer? | |
| NM_001079804.3:c.2815_2816del | NP_001073272.1:p.Val939LeufsTer? |