Linked Data
dbSNP Id:
rs746668959
ExAC:
11:118210458 A / ACACAC
gnomAD v2:
11-118210458-A-ACACAC
gnomAD v3:
11-118339743-A-ACACAC
gnomAD v4:
11-118339743-A-ACACAC
MyVariant Identifiers:
chr11:g.118210458_118210459insCACAC (hg19)
chr11:g.118339743_118339744insCACAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339743_118339744insCACAC , CM000673.2:g.118339743_118339744insCACAC | GRCh38 |
| NC_000011.9:g.118210458_118210459insCACAC , CM000673.1:g.118210458_118210459insCACAC | GRCh37 |
| NC_000011.8:g.117715668_117715669insCACAC | NCBI36 |
| NG_007566.1:g.400_401insCACAC , LRG_39:g.400_401insCACAC | |
| NG_009891.1:g.8001_8002insGTGTG , LRG_37:g.8001_8002insGTGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.924_925insGTGTG | ||
| ENST00000695667.1:n.442_443insGTGTG | ||
| ENST00000695668.1:n.2422_2423insGTGTG | ||
| ENST00000300692.9:c.406+31_406+32insGTGTG MANE Select | ENSP00000300692.4:n.406+31_406+32insGTGTG | |
| ENST00000300692.8:c.406+31_406+32insGTGTG | ENSP00000300692.4:n.406+31_406+32insGTGTG | |
| ENST00000392884.2:c.275-250_275-249insGTGTG | ENSP00000376622.2:n.275-250_275-249insGTGTG | |
| ENST00000526561.1:n.80-250_80-249insGTGTG | ||
| ENST00000529594.5:c.187+31_187+32insGTGTG | ENSP00000437335.1:n.187+31_187+32insGTGTG | |
| ENST00000534687.5:c.288-250_288-249insGTGTG | ||
| NM_000732.4:c.406+31_406+32insGTGTG , LRG_37t1:c.406+31_406+32insGTGTG | NP_000723.1:n.406+31_406+32insGTGTG | |
| NM_001040651.1:c.275-250_275-249insGTGTG | NP_001035741.1:n.275-250_275-249insGTGTG | |
| NM_001040651.2:c.275-250_275-249insGTGTG | NP_001035741.1:n.275-250_275-249insGTGTG | |
| NM_000732.6:c.406+31_406+32insGTGTG MANE Select | NP_000723.1:n.406+31_406+32insGTGTG |