Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871518_14871521del , CM000667.2:g.14871518_14871521del | GRCh38 |
| NC_000005.9:g.14871627_14871630del , CM000667.1:g.14871627_14871630del | GRCh37 |
| NC_000005.8:g.14924627_14924630del | NCBI36 |
| NG_008273.1:g.5259_5262del | |
| NG_008273.2:g.5266_5269del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-73_-70del MANE Select | ENSP00000284268.6:n.-73_-70del | |
| ENST00000284268.6:c.-73_-70del | ENSP00000284268.6:n.-73_-70del | |
| ENST00000505140.1:c.-73_-70del | ENSP00000426332.1:n.-73_-70del | |
| NM_054027.4:c.-73_-70del | NP_473368.1:n.-73_-70del | |
| XM_011514067.1:c.-73_-70del | XP_011512369.1:n.-73_-70del | |
| NM_054027.5:c.-73_-70del | NP_473368.1:n.-73_-70del | |
| NM_054027.6:c.-73_-70del MANE Select | NP_473368.1:n.-73_-70del |