Canonical Allele Identifier: CA2695233059
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796021del , CM000685.2:g.37796021del GRCh38
NC_000023.10:g.37655274del , CM000685.1:g.37655274del GRCh37
NC_000023.9:g.37540214del NCBI36
NG_009065.1:g.21001del , LRG_53:g.21001del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*63del ENSP00000512461.1:n.*63del
ENST00000696171.1:c.458del ENSP00000512462.1:p.Cys153SerfsTer4
ENST00000696172.1:c.338-2934del ENSP00000512463.1:n.338-2934del
ENST00000378588.5:c.554del MANE Select ENSP00000367851.4:p.Cys185SerfsTer4
ENST00000378588.4:c.554del ENSP00000367851.4:p.Cys185SerfsTer4
ENST00000465127.1:c.171+370021del ENSP00000417050.1:n.171+370021del
NM_000397.3:c.554del , LRG_53t1:c.554del NP_000388.2:p.Cys185SerfsTer4
XM_011543890.1:c.248del XP_011542192.1:p.Cys83SerfsTer4
NM_000397.4:c.554del MANE Select NP_000388.2:p.Cys185SerfsTer4