Linked Data
dbSNP Id:
rs1555119650
ExAC:
11:118210454 CACAA / C
gnomAD v2:
11-118210454-CACAA-C
gnomAD v3:
11-118339739-CACAA-C
gnomAD v4:
11-118339739-CACAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339743_118339746del , CM000673.2:g.118339743_118339746del | GRCh38 |
| NC_000011.9:g.118210458_118210461del , CM000673.1:g.118210458_118210461del | GRCh37 |
| NC_000011.8:g.117715668_117715671del | NCBI36 |
| NG_007566.1:g.400_403del , LRG_39:g.400_403del | |
| NG_009891.1:g.8002_8005del , LRG_37:g.8002_8005del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.925_928del | ||
| ENST00000695667.1:n.443_446del | ||
| ENST00000695668.1:n.2423_2426del | ||
| ENST00000300692.9:c.406+32_406+35del MANE Select | ENSP00000300692.4:n.406+32_406+35del | |
| ENST00000300692.8:c.406+32_406+35del | ENSP00000300692.4:n.406+32_406+35del | |
| ENST00000392884.2:c.275-249_275-246del | ENSP00000376622.2:n.275-249_275-246del | |
| ENST00000526561.1:n.80-249_80-246del | ||
| ENST00000529594.5:c.187+32_187+35del | ENSP00000437335.1:n.187+32_187+35del | |
| ENST00000534687.5:c.288-249_288-246del | ||
| NM_000732.4:c.406+32_406+35del , LRG_37t1:c.406+32_406+35del | NP_000723.1:n.406+32_406+35del | |
| NM_001040651.1:c.275-249_275-246del | NP_001035741.1:n.275-249_275-246del | |
| NM_001040651.2:c.275-249_275-246del | NP_001035741.1:n.275-249_275-246del | |
| NM_000732.6:c.406+32_406+35del MANE Select | NP_000723.1:n.406+32_406+35del |