Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8732026_8732034del , CM000685.2:g.8732026_8732034del | GRCh38 |
| NC_000023.10:g.8700067_8700075del , CM000685.1:g.8700067_8700075del | GRCh37 |
| NC_000023.9:g.8660067_8660075del | NCBI36 |
| NG_007088.1:g.5162_5170del | |
| NG_007088.2:g.5162_5170del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.12_20del MANE Select | ENSP00000262648.3:p.Val5_Gly7del | |
| ENST00000262648.7:c.12_20del | ENSP00000262648.3:p.Val5_Gly7del | |
| ENST00000619786.1:c.12_20del | ENSP00000478734.1:p.Val5_Gly7del | |
| NM_000216.2:c.12_20del | NP_000207.2:p.Val5_Gly7del | |
| XM_005274501.3:c.12_20del | XP_005274558.1:p.Val5_Gly7del | |
| NM_000216.3:c.12_20del | NP_000207.2:p.Val5_Gly7del | |
| XM_005274501.4:c.12_20del | XP_005274558.1:p.Val5_Gly7del | |
| NM_000216.4:c.12_20del MANE Select | NP_000207.2:p.Val5_Gly7del |