Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81646294_81646301del , CM000665.2:g.81646294_81646301del | GRCh38 |
| NC_000003.11:g.81695445_81695452del , CM000665.1:g.81695445_81695452del | GRCh37 |
| NC_000003.10:g.81778135_81778142del | NCBI36 |
| NG_011810.1:g.120502_120509del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.782+93_782+100del MANE Select | ENSP00000410833.2:n.782+93_782+100del | |
| ENST00000429644.6:c.782+93_782+100del | ENSP00000410833.2:n.782+93_782+100del | |
| ENST00000489715.1:c.659+93_659+100del | ENSP00000419638.1:n.659+93_659+100del | |
| ENST00000498468.1:n.332+93_332+100del | ||
| NM_000158.3:c.782+93_782+100del | NP_000149.3:n.782+93_782+100del | |
| NM_000158.4:c.782+93_782+100del MANE Select | NP_000149.4:n.782+93_782+100del |