Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674905del , CM000671.2:g.136674905del | GRCh38 |
| NC_000009.11:g.139569357del , CM000671.1:g.139569357del | GRCh37 |
| NC_000009.10:g.138689178del | NCBI36 |
| NG_008090.1:g.17557del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.589-96del MANE Select | ENSP00000360761.2:n.589-96del | |
| ENST00000371694.7:c.493-96del | ENSP00000360759.3:n.493-96del | |
| ENST00000371696.6:c.589-96del | ENSP00000360761.2:n.589-96del | |
| ENST00000472820.1:n.517-96del | ||
| ENST00000538402.1:c.589-96del | ENSP00000438919.1:n.589-96del | |
| NM_001012727.1:c.493-96del | NP_001012745.1:n.493-96del | |
| NM_006412.3:c.589-96del | NP_006403.2:n.589-96del | |
| NM_006412.4:c.589-96del MANE Select | NP_006403.2:n.589-96del | |
| NM_001012727.2:c.493-96del | NP_001012745.1:n.493-96del |