Canonical Allele Identifier: CA2695233066
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796059del , CM000685.2:g.37796059del GRCh38
NC_000023.10:g.37655312del , CM000685.1:g.37655312del GRCh37
NC_000023.9:g.37540252del NCBI36
NG_009065.1:g.21039del , LRG_53:g.21039del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*101del ENSP00000512461.1:n.*101del
ENST00000696171.1:c.496del ENSP00000512462.1:p.Arg166GlyfsTer16
ENST00000696172.1:c.338-2896del ENSP00000512463.1:n.338-2896del
ENST00000378588.5:c.592del MANE Select ENSP00000367851.4:p.Arg198GlyfsTer16
ENST00000378588.4:c.592del ENSP00000367851.4:p.Arg198GlyfsTer16
ENST00000465127.1:c.171+370059del ENSP00000417050.1:n.171+370059del
NM_000397.3:c.592del , LRG_53t1:c.592del NP_000388.2:p.Arg198GlyfsTer16
XM_011543890.1:c.286del XP_011542192.1:p.Arg96GlyfsTer16
NM_000397.4:c.592del MANE Select NP_000388.2:p.Arg198GlyfsTer16