Canonical Allele Identifier: CA2695233071
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796083del , CM000685.2:g.37796083del GRCh38
NC_000023.10:g.37655336del , CM000685.1:g.37655336del GRCh37
NC_000023.9:g.37540276del NCBI36
NG_009065.1:g.21063del , LRG_53:g.21063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*125del ENSP00000512461.1:n.*125del
ENST00000696171.1:c.520del ENSP00000512462.1:p.Trp174GlyfsTer8
ENST00000696172.1:c.338-2872del ENSP00000512463.1:n.338-2872del
ENST00000378588.5:c.616del MANE Select ENSP00000367851.4:p.Trp206GlyfsTer8
ENST00000378588.4:c.616del ENSP00000367851.4:p.Trp206GlyfsTer8
ENST00000465127.1:c.171+370083del ENSP00000417050.1:n.171+370083del
NM_000397.3:c.616del , LRG_53t1:c.616del NP_000388.2:p.Trp206GlyfsTer8
XM_011543890.1:c.310del XP_011542192.1:p.Trp104GlyfsTer8
NM_000397.4:c.616del MANE Select NP_000388.2:p.Trp206GlyfsTer8