Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414484_1414498del , CM000667.2:g.1414484_1414498del | GRCh38 |
| NC_000005.9:g.1414599_1414613del , CM000667.1:g.1414599_1414613del | GRCh37 |
| NC_000005.8:g.1467599_1467613del | NCBI36 |
| NG_015885.1:g.35931_35945del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+193_1156+207del MANE Select | ENSP00000270349.9:n.1156+193_1156+207del | |
| ENST00000270349.11:c.1156+193_1156+207del | ENSP00000270349.9:n.1156+193_1156+207del | |
| NM_001044.4:c.1156+193_1156+207del | NP_001035.1:n.1156+193_1156+207del | |
| NM_001044.5:c.1156+193_1156+207del MANE Select | NP_001035.1:n.1156+193_1156+207del |