Canonical Allele Identifier: CA2695233065

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796051_37796056dup , CM000685.2:g.37796051_37796056dup	GRCh38
NC_000023.10:g.37655304_37655309dup , CM000685.1:g.37655304_37655309dup	GRCh37
NC_000023.9:g.37540244_37540249dup	NCBI36
NG_009065.1:g.21031_21036dup , LRG_53:g.21031_21036dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*93_*98dup	ENSP00000512461.1:n.*93_*98dup
ENST00000696171.1:c.488_493dup	ENSP00000512462.1:p.Thr164_Ile165insLysThr
ENST00000696172.1:c.338-2904_338-2899dup	ENSP00000512463.1:n.338-2904_338-2899dup
ENST00000378588.5:c.584_589dup MANE Select	ENSP00000367851.4:p.Thr196_Ile197insLysThr
ENST00000378588.4:c.584_589dup	ENSP00000367851.4:p.Thr196_Ile197insLysThr
ENST00000465127.1:c.171+370051_171+370056dup	ENSP00000417050.1:n.171+370051_171+370056dup
NM_000397.3:c.584_589dup , LRG_53t1:c.584_589dup	NP_000388.2:p.Thr196_Ile197insLysThr
XM_011543890.1:c.278_283dup	XP_011542192.1:p.Thr94_Ile95insLysThr
NM_000397.4:c.584_589dup MANE Select	NP_000388.2:p.Thr196_Ile197insLysThr