Canonical Allele Identifier: CA2820471546

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796133_37796134insCGCT , CM000685.2:g.37796133_37796134insCGCT	GRCh38
NC_000023.10:g.37655386_37655387insCGCT , CM000685.1:g.37655386_37655387insCGCT	GRCh37
NC_000023.9:g.37540326_37540327insCGCT	NCBI36
NG_009065.1:g.21113_21114insCGCT , LRG_53:g.21113_21114insCGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*175_*176insCGCT	ENSP00000512461.1:n.*175_*176insCGCT
ENST00000696171.1:c.570_571insCGCT	ENSP00000512462.1:p.Gly191ArgfsTer4
ENST00000696172.1:c.338-2822_338-2821insCGCT	ENSP00000512463.1:n.338-2822_338-2821insCGCT
ENST00000378588.5:c.666_667insCGCT MANE Select	ENSP00000367851.4:p.Gly223ArgfsTer4
ENST00000378588.4:c.666_667insCGCT	ENSP00000367851.4:p.Gly223ArgfsTer4
ENST00000465127.1:c.171+370133_171+370134insCGCT	ENSP00000417050.1:n.171+370133_171+370134insCGCT
NM_000397.3:c.666_667insCGCT , LRG_53t1:c.666_667insCGCT	NP_000388.2:p.Gly223ArgfsTer4
XM_011543890.1:c.360_361insCGCT	XP_011542192.1:p.Gly121ArgfsTer4
NM_000397.4:c.666_667insCGCT MANE Select	NP_000388.2:p.Gly223ArgfsTer4