Canonical Allele Identifier: CA2695233074

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796095_37796098dup , CM000685.2:g.37796095_37796098dup	GRCh38
NC_000023.10:g.37655348_37655351dup , CM000685.1:g.37655348_37655351dup	GRCh37
NC_000023.9:g.37540288_37540291dup	NCBI36
NG_009065.1:g.21075_21078dup , LRG_53:g.21075_21078dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*137_*140dup	ENSP00000512461.1:n.*137_*140dup
ENST00000696171.1:c.532_535dup	ENSP00000512462.1:p.Leu179ProfsTer16
ENST00000696172.1:c.338-2860_338-2857dup	ENSP00000512463.1:n.338-2860_338-2857dup
ENST00000378588.5:c.628_631dup MANE Select	ENSP00000367851.4:p.Leu211ProfsTer16
ENST00000378588.4:c.628_631dup	ENSP00000367851.4:p.Leu211ProfsTer16
ENST00000465127.1:c.171+370095_171+370098dup	ENSP00000417050.1:n.171+370095_171+370098dup
NM_000397.3:c.628_631dup , LRG_53t1:c.628_631dup	NP_000388.2:p.Leu211ProfsTer16
XM_011543890.1:c.322_325dup	XP_011542192.1:p.Leu109ProfsTer16
NM_000397.4:c.628_631dup MANE Select	NP_000388.2:p.Leu211ProfsTer16