Linked Data
ClinVar Variation Id:
2888705
ClinVar RCV Id:
RCV003610794
dbSNP Id:
rs2039049083
gnomAD v3:
17-80105144-AGGGGCG-A
gnomAD v4:
17-80105144-AGGGGCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80105152_80105157del , CM000679.2:g.80105152_80105157del | GRCh38 |
| NC_000017.10:g.78078951_78078956del , CM000679.1:g.78078951_78078956del | GRCh37 |
| NC_000017.9:g.75693546_75693551del | NCBI36 |
| NG_009822.1:g.8597_8602del , LRG_673:g.8597_8602del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.546+20_546+25del | ENSP00000460543.2:n.546+20_546+25del | |
| ENST00000572080.2:c.546+20_546+25del | ENSP00000459972.2:n.546+20_546+25del | |
| ENST00000577106.6:c.546+20_546+25del | ENSP00000458306.2:n.546+20_546+25del | |
| ENST00000302262.8:c.546+20_546+25del MANE Select | ENSP00000305692.3:n.546+20_546+25del | |
| ENST00000302262.7:c.546+20_546+25del | ENSP00000305692.3:n.546+20_546+25del | |
| ENST00000390015.7:c.546+20_546+25del | ENSP00000374665.3:n.546+20_546+25del | |
| ENST00000570803.5:c.546+20_546+25del | ENSP00000460543.1:n.546+20_546+25del | |
| ENST00000577106.5:c.546+20_546+25del | ENSP00000458306.1:n.546+20_546+25del | |
| NM_000152.3:c.546+20_546+25del , LRG_673t1:c.546+20_546+25del | NP_000143.2:n.546+20_546+25del | |
| NM_001079803.1:c.546+20_546+25del | NP_001073271.1:n.546+20_546+25del | |
| NM_001079804.1:c.546+20_546+25del | NP_001073272.1:n.546+20_546+25del | |
| XM_005257193.1:c.546+20_546+25del | XP_005257250.1:n.546+20_546+25del | |
| XM_005257194.3:c.546+20_546+25del | XP_005257251.1:n.546+20_546+25del | |
| NM_000152.4:c.546+20_546+25del | NP_000143.2:n.546+20_546+25del | |
| NM_001079803.2:c.546+20_546+25del | NP_001073271.1:n.546+20_546+25del | |
| NM_001079804.2:c.546+20_546+25del | NP_001073272.1:n.546+20_546+25del | |
| XM_005257193.2:c.546+20_546+25del | XP_005257250.1:n.546+20_546+25del | |
| XM_005257194.4:c.546+20_546+25del | XP_005257251.1:n.546+20_546+25del | |
| NM_000152.5:c.546+20_546+25del MANE Select | NP_000143.2:n.546+20_546+25del | |
| NM_001079803.3:c.546+20_546+25del | NP_001073271.1:n.546+20_546+25del | |
| NM_001079804.3:c.546+20_546+25del | NP_001073272.1:n.546+20_546+25del |