Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125371_55125373del , CM000666.2:g.55125371_55125373del | GRCh38 |
| NC_000004.11:g.55991538_55991540del , CM000666.1:g.55991538_55991540del | GRCh37 |
| NC_000004.10:g.55686295_55686297del | NCBI36 |
| NG_012004.1:g.5223_5225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-80_-78del MANE Select | ENSP00000263923.4:n.-80_-78del | |
| ENST00000263923.4:c.-80_-78del | ENSP00000263923.4:n.-80_-78del | |
| NM_002253.2:c.-80_-78del | NP_002244.1:n.-80_-78del | |
| NM_002253.3:c.-80_-78del | NP_002244.1:n.-80_-78del | |
| NM_002253.4:c.-80_-78del MANE Select | NP_002244.1:n.-80_-78del |