Linked Data
dbSNP Id:
rs1233487158
gnomAD v3:
11-118339718-A-ACACACG
gnomAD v4:
11-118339718-A-ACACACG
MyVariant Identifiers:
chr11:g.118210433_118210434insCACACG (hg19)
chr11:g.118339718_118339719insCACACG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339723_118339724insGCACAC , CM000673.2:g.118339723_118339724insGCACAC | GRCh38 |
| NC_000011.9:g.118210438_118210439insGCACAC , CM000673.1:g.118210438_118210439insGCACAC | GRCh37 |
| NC_000011.8:g.117715648_117715649insGCACAC | NCBI36 |
| NG_007566.1:g.380_381insGCACAC , LRG_39:g.380_381insGCACAC | |
| NG_009891.1:g.8026_8027insCGTGTG , LRG_37:g.8026_8027insCGTGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.949_950insCGTGTG | ||
| ENST00000695667.1:n.467_468insCGTGTG | ||
| ENST00000300692.9:c.406+56_406+57insCGTGTG MANE Select | ENSP00000300692.4:n.406+56_406+57insCGTGTG | |
| ENST00000300692.8:c.406+56_406+57insCGTGTG | ENSP00000300692.4:n.406+56_406+57insCGTGTG | |
| ENST00000392884.2:c.275-225_275-224insCGTGTG | ENSP00000376622.2:n.275-225_275-224insCGTGTG | |
| ENST00000526561.1:n.80-225_80-224insCGTGTG | ||
| ENST00000529594.5:c.187+56_187+57insCGTGTG | ENSP00000437335.1:n.187+56_187+57insCGTGTG | |
| ENST00000534687.5:c.288-225_288-224insCGTGTG | ||
| NM_000732.4:c.406+56_406+57insCGTGTG , LRG_37t1:c.406+56_406+57insCGTGTG | NP_000723.1:n.406+56_406+57insCGTGTG | |
| NM_001040651.1:c.275-225_275-224insCGTGTG | NP_001035741.1:n.275-225_275-224insCGTGTG | |
| NM_001040651.2:c.275-225_275-224insCGTGTG | NP_001035741.1:n.275-225_275-224insCGTGTG | |
| NM_000732.6:c.406+56_406+57insCGTGTG MANE Select | NP_000723.1:n.406+56_406+57insCGTGTG |