Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55812059_55812062del , CM000673.2:g.55812059_55812062del | GRCh38 |
| NC_000011.9:g.55579535_55579538del , CM000673.1:g.55579535_55579538del | GRCh37 |
| NC_000011.8:g.55336111_55336114del | NCBI36 |
| NG_052620.1:g.5693_5696del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.593_596del MANE Select | ENSP00000485319.1:p.Leu198ArgfsTer7 | |
| ENST00000333973.3:c.593_596del | ENSP00000335529.2:p.Leu198ArgfsTer7 | |
| ENST00000623450.1:c.593_596del | ENSP00000485509.1:p.Leu198ArgfsTer7 | |
| ENST00000625203.1:c.593_596del | ENSP00000485319.1:p.Leu198ArgfsTer7 | |
| NM_001004738.1:c.593_596del | NP_001004738.1:p.Leu198ArgfsTer7 | |
| NM_001004738.2:c.593_596del MANE Select | NP_001004738.1:p.Leu198ArgfsTer7 |