Linked Data
dbSNP Id:
rs1565517598
gnomAD v2:
11-118210446-C-CACAG
gnomAD v4:
11-118339731-C-CACAG
MyVariant Identifiers:
chr11:g.118210450_118210458delinsGACACACACACAA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339734_118339735insGACA , CM000673.2:g.118339734_118339735insGACA | GRCh38 |
| NC_000011.9:g.118210449_118210450insGACA , CM000673.1:g.118210449_118210450insGACA | GRCh37 |
| NC_000011.8:g.117715659_117715660insGACA | NCBI36 |
| NG_007566.1:g.391_392insGACA , LRG_39:g.391_392insGACA | |
| NG_009891.1:g.8013_8014insCTGT , LRG_37:g.8013_8014insCTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.936_937insCTGT | ||
| ENST00000695667.1:n.454_455insCTGT | ||
| ENST00000695668.1:n.2434_2435insCTGT | ||
| ENST00000300692.9:c.406+43_406+44insCTGT MANE Select | ENSP00000300692.4:n.406+43_406+44insCTGT | |
| ENST00000300692.8:c.406+43_406+44insCTGT | ENSP00000300692.4:n.406+43_406+44insCTGT | |
| ENST00000392884.2:c.275-238_275-237insCTGT | ENSP00000376622.2:n.275-238_275-237insCTGT | |
| ENST00000526561.1:n.80-238_80-237insCTGT | ||
| ENST00000529594.5:c.187+43_187+44insCTGT | ENSP00000437335.1:n.187+43_187+44insCTGT | |
| ENST00000534687.5:c.288-238_288-237insCTGT | ||
| NM_000732.4:c.406+43_406+44insCTGT , LRG_37t1:c.406+43_406+44insCTGT | NP_000723.1:n.406+43_406+44insCTGT | |
| NM_001040651.1:c.275-238_275-237insCTGT | NP_001035741.1:n.275-238_275-237insCTGT | |
| NM_001040651.2:c.275-238_275-237insCTGT | NP_001035741.1:n.275-238_275-237insCTGT | |
| NM_000732.6:c.406+43_406+44insCTGT MANE Select | NP_000723.1:n.406+43_406+44insCTGT |