Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224359_52224366del , CM000665.2:g.52224359_52224366del | GRCh38 |
| NC_000003.11:g.52258375_52258382del , CM000665.1:g.52258375_52258382del | GRCh37 |
| NC_000003.10:g.52233415_52233422del | NCBI36 |
| NG_033933.1:g.6799_6806del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360658.3:c.4-53_4-46del MANE Select | ENSP00000353874.2:n.4-53_4-46del | |
| ENST00000360658.2:c.4-53_4-46del | ENSP00000353874.2:n.4-53_4-46del | |
| ENST00000478201.1:c.223-98_223-91del | ||
| ENST00000494383.1:c.464-53_464-46del | ||
| NM_017442.3:c.4-53_4-46del | NP_059138.1:n.4-53_4-46del | |
| NM_017442.4:c.4-53_4-46del MANE Select | NP_059138.1:n.4-53_4-46del |