Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63962200del , CM000667.2:g.63962200del | GRCh38 |
| NC_000005.9:g.63258027del , CM000667.1:g.63258027del | GRCh37 |
| NC_000005.8:g.63293783del | NCBI36 |
| NG_032816.1:g.5094del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000524.4:c.-480del MANE Select | NP_000515.2:n.-480del |
| ENST00000323865.5:c.-480del MANE Select | ENSP00000316244.4:n.-480del |
| NM_000524.3:c.-480del | NP_000515.2:n.-480del |
| ENST00000506598.1:c.-387-93del | ENSP00000423433.1:n.-387-93del |