HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130204912del , CM000671.2:g.130204912del | GRCh38 |
NC_000009.11:g.132967191del , CM000671.1:g.132967191del | GRCh37 |
NC_000009.10:g.132007012del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372398.6:c.89+3930del MANE Select | ENSP00000361475.3:n.89+3930del | |
ENST00000372398.5:c.89+3930del | ENSP00000361475.3:n.89+3930del | |
ENST00000493042.1:n.143+3930del | ||
ENST00000630865.1:c.35+3930del | ENSP00000486695.1:n.35+3930del | |
NM_001128826.1:c.35+3930del | NP_001122298.1:n.35+3930del | |
NM_014286.3:c.89+3930del | NP_055101.2:n.89+3930del | |
NM_014286.4:c.89+3930del MANE Select | NP_055101.2:n.89+3930del | |
NM_001128826.2:c.35+3930del | NP_001122298.1:n.35+3930del |