Linked Data
dbSNP Id:
rs1555119651
ExAC:
11:118210456 CAA / C
gnomAD v2:
11-118210456-CAA-C
gnomAD v3:
11-118339741-CAA-C
gnomAD v4:
11-118339741-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339743_118339744del , CM000673.2:g.118339743_118339744del | GRCh38 |
| NC_000011.9:g.118210458_118210459del , CM000673.1:g.118210458_118210459del | GRCh37 |
| NC_000011.8:g.117715668_117715669del | NCBI36 |
| NG_007566.1:g.400_401del , LRG_39:g.400_401del | |
| NG_009891.1:g.8002_8003del , LRG_37:g.8002_8003del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.925_926del | ||
| ENST00000695667.1:n.443_444del | ||
| ENST00000695668.1:n.2423_2424del | ||
| ENST00000300692.9:c.406+32_406+33del MANE Select | ENSP00000300692.4:n.406+32_406+33del | |
| ENST00000300692.8:c.406+32_406+33del | ENSP00000300692.4:n.406+32_406+33del | |
| ENST00000392884.2:c.275-249_275-248del | ENSP00000376622.2:n.275-249_275-248del | |
| ENST00000526561.1:n.80-249_80-248del | ||
| ENST00000529594.5:c.187+32_187+33del | ENSP00000437335.1:n.187+32_187+33del | |
| ENST00000534687.5:c.288-249_288-248del | ||
| NM_000732.4:c.406+32_406+33del , LRG_37t1:c.406+32_406+33del | NP_000723.1:n.406+32_406+33del | |
| NM_001040651.1:c.275-249_275-248del | NP_001035741.1:n.275-249_275-248del | |
| NM_001040651.2:c.275-249_275-248del | NP_001035741.1:n.275-249_275-248del | |
| NM_000732.6:c.406+32_406+33del MANE Select | NP_000723.1:n.406+32_406+33del |