Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70203511_70203517del , CM000673.2:g.70203511_70203517del | GRCh38 |
| NC_000011.9:g.70049617_70049623del , CM000673.1:g.70049617_70049623del | GRCh37 |
| NC_000011.8:g.69727265_69727271del | NCBI36 |
| NG_027966.1:g.5349_5355del , LRG_228:g.5349_5355del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301838.5:c.52_58del MANE Select | ENSP00000301838.5:p.Ser18Ter | |
| ENST00000301838.4:c.52_58del | ENSP00000301838.4:p.Ser18Ter | |
| NM_003824.3:c.52_58del , LRG_228t1:c.52_58del | NP_003815.1:p.Ser18Ter | |
| NM_003824.4:c.52_58del MANE Select | NP_003815.1:p.Ser18Ter |