Linked Data
dbSNP Id:
rs57470363
gnomAD v2:
11-118210456-C-CAT
gnomAD v3:
11-118339741-C-CAT
gnomAD v4:
11-118339741-C-CAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339742_118339743insTA , CM000673.2:g.118339742_118339743insTA | GRCh38 |
| NC_000011.9:g.118210457_118210458insTA , CM000673.1:g.118210457_118210458insTA | GRCh37 |
| NC_000011.8:g.117715667_117715668insTA | NCBI36 |
| NG_007566.1:g.399_400insTA , LRG_39:g.399_400insTA | |
| NG_009891.1:g.8003_8004insAT , LRG_37:g.8003_8004insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.926_927insAT | ||
| ENST00000695667.1:n.444_445insAT | ||
| ENST00000695668.1:n.2424_2425insAT | ||
| ENST00000300692.9:c.406+33_406+34insAT MANE Select | ENSP00000300692.4:n.406+33_406+34insAT | |
| ENST00000300692.8:c.406+33_406+34insAT | ENSP00000300692.4:n.406+33_406+34insAT | |
| ENST00000392884.2:c.275-248_275-247insAT | ENSP00000376622.2:n.275-248_275-247insAT | |
| ENST00000526561.1:n.80-248_80-247insAT | ||
| ENST00000529594.5:c.187+33_187+34insAT | ENSP00000437335.1:n.187+33_187+34insAT | |
| ENST00000534687.5:c.288-248_288-247insAT | ||
| NM_000732.4:c.406+33_406+34insAT , LRG_37t1:c.406+33_406+34insAT | NP_000723.1:n.406+33_406+34insAT | |
| NM_001040651.1:c.275-248_275-247insAT | NP_001035741.1:n.275-248_275-247insAT | |
| NM_001040651.2:c.275-248_275-247insAT | NP_001035741.1:n.275-248_275-247insAT | |
| NM_000732.6:c.406+33_406+34insAT MANE Select | NP_000723.1:n.406+33_406+34insAT |