Canonical Allele Identifier: CA2695233060
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796022_37796027dup , CM000685.2:g.37796022_37796027dup GRCh38
NC_000023.10:g.37655275_37655280dup , CM000685.1:g.37655275_37655280dup GRCh37
NC_000023.9:g.37540215_37540220dup NCBI36
NG_009065.1:g.21002_21007dup , LRG_53:g.21002_21007dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*64_*69dup ENSP00000512461.1:n.*64_*69dup
ENST00000696171.1:c.459_464dup ENSP00000512462.1:p.Ile155_Leu156insLeuIle
ENST00000696172.1:c.338-2933_338-2928dup ENSP00000512463.1:n.338-2933_338-2928dup
ENST00000378588.5:c.555_560dup MANE Select ENSP00000367851.4:p.Ile187_Leu188insLeuIle
ENST00000378588.4:c.555_560dup ENSP00000367851.4:p.Ile187_Leu188insLeuIle
ENST00000465127.1:c.171+370022_171+370027dup ENSP00000417050.1:n.171+370022_171+370027dup
NM_000397.3:c.555_560dup , LRG_53t1:c.555_560dup NP_000388.2:p.Ile187_Leu188insLeuIle
XM_011543890.1:c.249_254dup XP_011542192.1:p.Ile85_Leu86insLeuIle
NM_000397.4:c.555_560dup MANE Select NP_000388.2:p.Ile187_Leu188insLeuIle