Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414420_1414421insA , CM000667.2:g.1414420_1414421insA | GRCh38 |
| NC_000005.9:g.1414535_1414536insA , CM000667.1:g.1414535_1414536insA | GRCh37 |
| NC_000005.8:g.1467535_1467536insA | NCBI36 |
| NG_015885.1:g.36008_36009insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+270_1156+271insT MANE Select | ENSP00000270349.9:n.1156+270_1156+271insT | |
| ENST00000270349.11:c.1156+270_1156+271insT | ENSP00000270349.9:n.1156+270_1156+271insT | |
| NM_001044.4:c.1156+270_1156+271insT | NP_001035.1:n.1156+270_1156+271insT | |
| NM_001044.5:c.1156+270_1156+271insT MANE Select | NP_001035.1:n.1156+270_1156+271insT |