Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414405_1414406del , CM000667.2:g.1414405_1414406del | GRCh38 |
| NC_000005.9:g.1414520_1414521del , CM000667.1:g.1414520_1414521del | GRCh37 |
| NC_000005.8:g.1467520_1467521del | NCBI36 |
| NG_015885.1:g.36023_36024del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+285_1156+286del MANE Select | ENSP00000270349.9:n.1156+285_1156+286del | |
| ENST00000270349.11:c.1156+285_1156+286del | ENSP00000270349.9:n.1156+285_1156+286del | |
| NM_001044.4:c.1156+285_1156+286del | NP_001035.1:n.1156+285_1156+286del | |
| NM_001044.5:c.1156+285_1156+286del MANE Select | NP_001035.1:n.1156+285_1156+286del |