Linked Data
dbSNP Id:
rs34879481
ExAC:
11:5274452 G / GT
gnomAD v2:
11-5274452-G-GT
gnomAD v3:
11-5253222-G-GT
gnomAD v4:
11-5253222-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253222_5253223insT , CM000673.2:g.5253222_5253223insT | GRCh38 |
| NC_000011.9:g.5274452_5274453insT , CM000673.1:g.5274452_5274453insT | GRCh37 |
| NC_000011.8:g.5231028_5231029insT | NCBI36 |
| NG_000007.3:g.44393_44394insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.*54_*55insA MANE Select | ENSP00000338082.4:n.*54_*55insA | |
| ENST00000380252.6:c.*54_*55insA | ENSP00000369602.2:n.*54_*55insA | |
| ENST00000642908.1:c.315+1069_315+1070insA | ENSP00000495346.1:n.315+1069_315+1070insA | |
| ENST00000647543.1:c.378+120_378+121insA | ENSP00000496470.1:n.378+120_378+121insA | |
| ENST00000336906.4:c.*54_*55insA | ENSP00000338082.4:n.*54_*55insA | |
| ENST00000380252.5:c.*54_*55insA | ENSP00000369602.1:n.*54_*55insA | |
| ENST00000380259.6:c.*54_*55insA | ENSP00000369609.2:n.*54_*55insA | |
| ENST00000620888.4:c.315+1069_315+1070insA | ENSP00000479637.1:n.315+1069_315+1070insA | |
| NM_000184.2:c.*54_*55insA | NP_000175.1:n.*54_*55insA | |
| NM_000184.3:c.*54_*55insA MANE Select | NP_000175.1:n.*54_*55insA |