Linked Data
dbSNP Id:
rs56319346
gnomAD v4:
11-118339742-A-ACAC
MyVariant Identifiers:
chr11:g.118210457_118210458insCAC (hg19)
chr11:g.118339742_118339743insCAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339742_118339743insCAC , CM000673.2:g.118339742_118339743insCAC | GRCh38 |
| NC_000011.9:g.118210457_118210458insCAC , CM000673.1:g.118210457_118210458insCAC | GRCh37 |
| NC_000011.8:g.117715667_117715668insCAC | NCBI36 |
| NG_007566.1:g.399_400insCAC , LRG_39:g.399_400insCAC | |
| NG_009891.1:g.8002_8003insGTG , LRG_37:g.8002_8003insGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.925_926insGTG | ||
| ENST00000695667.1:n.443_444insGTG | ||
| ENST00000695668.1:n.2423_2424insGTG | ||
| ENST00000300692.9:c.406+32_406+33insGTG MANE Select | ENSP00000300692.4:n.406+32_406+33insGTG | |
| ENST00000300692.8:c.406+32_406+33insGTG | ENSP00000300692.4:n.406+32_406+33insGTG | |
| ENST00000392884.2:c.275-249_275-248insGTG | ENSP00000376622.2:n.275-249_275-248insGTG | |
| ENST00000526561.1:n.80-249_80-248insGTG | ||
| ENST00000529594.5:c.187+32_187+33insGTG | ENSP00000437335.1:n.187+32_187+33insGTG | |
| ENST00000534687.5:c.288-249_288-248insGTG | ||
| NM_000732.4:c.406+32_406+33insGTG , LRG_37t1:c.406+32_406+33insGTG | NP_000723.1:n.406+32_406+33insGTG | |
| NM_001040651.1:c.275-249_275-248insGTG | NP_001035741.1:n.275-249_275-248insGTG | |
| NM_001040651.2:c.275-249_275-248insGTG | NP_001035741.1:n.275-249_275-248insGTG | |
| NM_000732.6:c.406+32_406+33insGTG MANE Select | NP_000723.1:n.406+32_406+33insGTG |