Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124744952del , CM000665.2:g.124744952del | GRCh38 |
| NC_000003.11:g.124463799del , CM000665.1:g.124463799del | GRCh37 |
| NC_000003.10:g.125946489del | NCBI36 |
| NG_017037.1:g.19587del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000373.4:c.*868del MANE Select | NP_000364.1:n.*868del |
| ENST00000232607.7:c.*868del MANE Select | ENSP00000232607.2:n.*868del |
| NM_000373.3:c.*868del | NP_000364.1:n.*868del |
| NR_033434.1:n.2263del | |
| NR_033434.2:n.2177del | |
| NR_033437.1:n.2516del | |
| NR_033437.2:n.2430del | |
| ENST00000232607.6:c.*868del | ENSP00000232607.2:n.*868del |
| XR_001740253.2:n.2545del |