Linked Data
dbSNP Id:
rs773317140
ExAC:
11:118210469 ATG / A
gnomAD v2:
11-118210469-ATG-A
gnomAD v4:
11-118339754-ATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339755_118339756del , CM000673.2:g.118339755_118339756del | GRCh38 |
| NC_000011.9:g.118210470_118210471del , CM000673.1:g.118210470_118210471del | GRCh37 |
| NC_000011.8:g.117715680_117715681del | NCBI36 |
| NG_007566.1:g.412_413del , LRG_39:g.412_413del | |
| NG_009891.1:g.7989_7990del , LRG_37:g.7989_7990del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.912_913del | ||
| ENST00000695667.1:n.430_431del | ||
| ENST00000695668.1:n.2410_2411del | ||
| ENST00000300692.9:c.406+19_406+20del MANE Select | ENSP00000300692.4:n.406+19_406+20del | |
| ENST00000300692.8:c.406+19_406+20del | ENSP00000300692.4:n.406+19_406+20del | |
| ENST00000392884.2:c.275-262_275-261del | ENSP00000376622.2:n.275-262_275-261del | |
| ENST00000526561.1:n.80-262_80-261del | ||
| ENST00000529594.5:c.187+19_187+20del | ENSP00000437335.1:n.187+19_187+20del | |
| ENST00000534687.5:c.288-262_288-261del | ||
| NM_000732.4:c.406+19_406+20del , LRG_37t1:c.406+19_406+20del | NP_000723.1:n.406+19_406+20del | |
| NM_001040651.1:c.275-262_275-261del | NP_001035741.1:n.275-262_275-261del | |
| NM_001040651.2:c.275-262_275-261del | NP_001035741.1:n.275-262_275-261del | |
| NM_000732.6:c.406+19_406+20del MANE Select | NP_000723.1:n.406+19_406+20del |