Canonical Allele Identifier: CA2695232458
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783599del , CM000685.2:g.37783599del GRCh38
NC_000023.10:g.37642852del , CM000685.1:g.37642852del GRCh37
NC_000023.9:g.37527796del NCBI36
NG_009065.1:g.8583del , LRG_53:g.8583del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.251del ENSP00000512461.1:p.Ala84GlyfsTer24
ENST00000696171.1:c.155del ENSP00000512462.1:p.Ala52GlyfsTer24
ENST00000696172.1:c.251del ENSP00000512463.1:p.Ala84GlyfsTer24
ENST00000696173.1:n.259del
ENST00000378588.5:c.251del MANE Select ENSP00000367851.4:p.Ala84GlyfsTer24
ENST00000378588.4:c.251del ENSP00000367851.4:p.Ala84GlyfsTer24
ENST00000465127.1:c.171+357599del ENSP00000417050.1:n.171+357599del
NM_000397.3:c.251del , LRG_53t1:c.251del NP_000388.2:p.Ala84GlyfsTer24
XM_011543890.1:c.-180del XP_011542192.1:n.-180del
NM_000397.4:c.251del MANE Select NP_000388.2:p.Ala84GlyfsTer24