Linked Data
dbSNP Id:
rs1554182911
ExAC:
6:31239166 G / GA
gnomAD v2:
6-31239166-G-GA
gnomAD v4:
6-31271389-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271389_31271390insA , CM000668.2:g.31271389_31271390insA | GRCh38 |
| NC_000006.11:g.31239166_31239167insA , CM000668.1:g.31239166_31239167insA | GRCh37 |
| NC_000006.10:g.31347145_31347146insA | NCBI36 |
| NG_029422.2:g.5742_5743insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.344-42_344-41insT MANE Select | ENSP00000365402.5:n.344-42_344-41insT | |
| ENST00000376228.9:c.344-42_344-41insT | ENSP00000365402.5:n.344-42_344-41insT | |
| ENST00000376237.8:c.344-59_344-58insT | ENSP00000365412.4:n.344-59_344-58insT | |
| ENST00000383329.7:c.344-42_344-41insT | ENSP00000372819.3:n.344-42_344-41insT | |
| ENST00000415537.1:c.342-42_342-41insT | ||
| ENST00000484378.1:n.571_572insT | ||
| ENST00000487245.5:n.661_662insT | ||
| ENST00000495835.1:n.533-42_533-41insT | ||
| NM_002117.5:c.344-42_344-41insT | NP_002108.4:n.344-42_344-41insT | |
| NM_002117.6:c.344-42_344-41insT MANE Select | NP_002108.4:n.344-42_344-41insT |