Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030684_94030685insACA , CM000663.2:g.94030684_94030685insACA | GRCh38 |
| NC_000001.10:g.94496240_94496241insACA , CM000663.1:g.94496240_94496241insACA | GRCh37 |
| NC_000001.9:g.94268828_94268829insACA | NCBI36 |
| NG_009073.1:g.95465_95466insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4254-159_4254-158insTGT MANE Select | ENSP00000359245.3:n.4254-159_4254-158insTGT | |
| ENST00000370225.3:c.4254-159_4254-158insTGT | ENSP00000359245.3:n.4254-159_4254-158insTGT | |
| ENST00000536513.5:c.630-159_630-158insTGT | ENSP00000439707.2:n.630-159_630-158insTGT | |
| NM_000350.2:c.4254-159_4254-158insTGT | NP_000341.2:n.4254-159_4254-158insTGT | |
| NM_000350.3:c.4254-159_4254-158insTGT MANE Select | NP_000341.2:n.4254-159_4254-158insTGT |