Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14977955del , CM000674.2:g.14977955del | GRCh38 |
| NC_000012.11:g.15130889del , CM000674.1:g.15130889del | GRCh37 |
| NC_000012.10:g.15022156del | NCBI36 |
| NG_016859.1:g.9934del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.-41-17del MANE Select | ENSP00000266395.2:n.-41-17del | |
| ENST00000266395.2:c.-41-17del | ENSP00000266395.2:n.-41-17del | |
| NM_006205.2:c.-41-17del | NP_006196.1:n.-41-17del | |
| XR_931376.1:n.175+11532del | ||
| XM_017019431.2:c.-58del | XP_016874920.1:n.-58del | |
| XR_931376.2:n.389+11532del | ||
| NM_006205.3:c.-41-17del MANE Select | NP_006196.1:n.-41-17del |