Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6877878del , CM000670.2:g.6877878del | GRCh38 |
| NC_000008.10:g.6735400del , CM000670.1:g.6735400del | GRCh37 |
| NC_000008.9:g.6722810del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297439.4:c.-19del MANE Select | ENSP00000297439.3:n.-19del | |
| ENST00000297439.3:c.-19del | ENSP00000297439.3:n.-19del | |
| NM_005218.3:c.-19del | NP_005209.1:n.-19del | |
| NM_005218.4:c.-19del MANE Select | NP_005209.1:n.-19del |