Canonical Allele Identifier: CA2695233077
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796134_37796135delinsTT , CM000685.2:g.37796134_37796135delinsTT GRCh38
NC_000023.10:g.37655387_37655388delinsTT , CM000685.1:g.37655387_37655388delinsTT GRCh37
NC_000023.9:g.37540327_37540328delinsTT NCBI36
NG_009065.1:g.21114_21115delinsTT , LRG_53:g.21114_21115delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*176_*177delinsTT ENSP00000512461.1:n.*176_*177delinsTT
ENST00000696171.1:c.571_572delinsTT ENSP00000512462.1:p.Gly191Leu
ENST00000696172.1:c.338-2821_338-2820delinsTT ENSP00000512463.1:n.338-2821_338-2820delinsTT
ENST00000378588.5:c.667_668delinsTT MANE Select ENSP00000367851.4:p.Gly223Leu
ENST00000378588.4:c.667_668delinsTT ENSP00000367851.4:p.Gly223Leu
ENST00000465127.1:c.171+370134_171+370135delinsTT ENSP00000417050.1:n.171+370134_171+370135delinsTT
NM_000397.3:c.667_668delinsTT , LRG_53t1:c.667_668delinsTT NP_000388.2:p.Gly223Leu
XM_011543890.1:c.361_362delinsTT XP_011542192.1:p.Gly121Leu
NM_000397.4:c.667_668delinsTT MANE Select NP_000388.2:p.Gly223Leu