Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35797507del , CM000668.2:g.35797507del | GRCh38 |
| NC_000006.11:g.35765284del , CM000668.1:g.35765284del | GRCh37 |
| NC_000006.10:g.35873262del | NCBI36 |
| NG_012184.3:g.5302del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651132.1:c.-255+48del | ENSP00000498322.1:n.-255+48del | |
| XM_011514403.1:c.-135+48del | XP_011512705.1:n.-135+48del |