Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1444402_1444403del , CM000667.2:g.1444402_1444403del | GRCh38 |
| NC_000005.9:g.1444517_1444518del , CM000667.1:g.1444517_1444518del | GRCh37 |
| NC_000005.8:g.1497517_1497518del | NCBI36 |
| NG_015885.1:g.6027_6028del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.-46+946_-46+947del MANE Select | ENSP00000270349.9:n.-46+946_-46+947del | |
| ENST00000270349.11:c.-46+946_-46+947del | ENSP00000270349.9:n.-46+946_-46+947del | |
| NM_001044.4:c.-46+946_-46+947del | NP_001035.1:n.-46+946_-46+947del | |
| NM_001044.5:c.-46+946_-46+947del MANE Select | NP_001035.1:n.-46+946_-46+947del |