Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39244620_39244621del , CM000684.2:g.39244620_39244621del | GRCh38 |
| NC_000022.10:g.39640625_39640626del , CM000684.1:g.39640625_39640626del | GRCh37 |
| NC_000022.9:g.37970571_37970572del | NCBI36 |
| NG_012111.1:g.5340_5341del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331163.11:c.-650_-649del MANE Select | ENSP00000330382.6:n.-650_-649del | |
| ENST00000331163.10:c.-650_-649del | ENSP00000330382.6:n.-650_-649del | |
| NM_002608.2:c.-650_-649del | NP_002599.1:n.-650_-649del | |
| NM_002608.3:c.-650_-649del | NP_002599.1:n.-650_-649del | |
| NM_002608.4:c.-650_-649del MANE Select | NP_002599.1:n.-650_-649del |