Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648062del , CM000673.2:g.69648062del | GRCh38 |
| NC_000011.9:g.69462830del , CM000673.1:g.69462830del | GRCh37 |
| NC_000011.8:g.69172011del | NCBI36 |
| NG_007375.1:g.11958del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.643del MANE Select | ENSP00000227507.2:p.Leu215Ter | |
| ENST00000227507.2:c.643del | ENSP00000227507.2:p.Leu215Ter | |
| ENST00000536559.1:c.*63del | ENSP00000438482.1:n.*63del | |
| ENST00000542367.1:n.106del | ||
| ENST00000545484.1:n.349del | ||
| NM_053056.2:c.643del | NP_444284.1:p.Leu215Ter | |
| XM_006718653.2:c.667del | XP_006718716.1:p.Leu223Ter | |
| NM_053056.3:c.643del MANE Select | NP_444284.1:p.Leu215Ter |