Linked Data
dbSNP Id:
rs756611013
ExAC:
11:118210452 CACACAA / C
gnomAD v2:
11-118210452-CACACAA-C
gnomAD v3:
11-118339737-CACACAA-C
gnomAD v4:
11-118339737-CACACAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339743_118339748del , CM000673.2:g.118339743_118339748del | GRCh38 |
| NC_000011.9:g.118210458_118210463del , CM000673.1:g.118210458_118210463del | GRCh37 |
| NC_000011.8:g.117715668_117715673del | NCBI36 |
| NG_007566.1:g.400_405del , LRG_39:g.400_405del | |
| NG_009891.1:g.8002_8007del , LRG_37:g.8002_8007del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.925_930del | ||
| ENST00000695667.1:n.443_448del | ||
| ENST00000695668.1:n.2423_2428del | ||
| ENST00000300692.9:c.406+32_406+37del MANE Select | ENSP00000300692.4:n.406+32_406+37del | |
| ENST00000300692.8:c.406+32_406+37del | ENSP00000300692.4:n.406+32_406+37del | |
| ENST00000392884.2:c.275-249_275-244del | ENSP00000376622.2:n.275-249_275-244del | |
| ENST00000526561.1:n.80-249_80-244del | ||
| ENST00000529594.5:c.187+32_187+37del | ENSP00000437335.1:n.187+32_187+37del | |
| ENST00000534687.5:c.288-249_288-244del | ||
| NM_000732.4:c.406+32_406+37del , LRG_37t1:c.406+32_406+37del | NP_000723.1:n.406+32_406+37del | |
| NM_001040651.1:c.275-249_275-244del | NP_001035741.1:n.275-249_275-244del | |
| NM_001040651.2:c.275-249_275-244del | NP_001035741.1:n.275-249_275-244del | |
| NM_000732.6:c.406+32_406+37del MANE Select | NP_000723.1:n.406+32_406+37del |