Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101209224del , CM000669.2:g.101209224del | GRCh38 |
| NC_000007.13:g.100852505del , CM000669.1:g.100852505del | GRCh37 |
| NC_000007.12:g.100639225del | NCBI36 |
| NG_012148.1:g.13520del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001084.5:c.1684-254del MANE Select | NP_001075.1:n.1684-254del |
| ENST00000223127.8:c.1684-254del MANE Select | ENSP00000223127.3:n.1684-254del |
| NM_001084.4:c.1684-254del | NP_001075.1:n.1684-254del |
| ENST00000223127.7:c.1684-254del | ENSP00000223127.3:n.1684-254del |
| ENST00000454310.5:c.408-254del | |
| ENST00000487563.1:n.348-254del |