Canonical Allele Identifier: CA2695233067

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796064_37796071dup , CM000685.2:g.37796064_37796071dup	GRCh38
NC_000023.10:g.37655317_37655324dup , CM000685.1:g.37655317_37655324dup	GRCh37
NC_000023.9:g.37540257_37540264dup	NCBI36
NG_009065.1:g.21044_21051dup , LRG_53:g.21044_21051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*106_*113dup	ENSP00000512461.1:n.*106_*113dup
ENST00000696171.1:c.501_508dup	ENSP00000512462.1:p.Phe170CysfsTer15
ENST00000696172.1:c.338-2891_338-2884dup	ENSP00000512463.1:n.338-2891_338-2884dup
ENST00000378588.5:c.597_604dup MANE Select	ENSP00000367851.4:p.Phe202CysfsTer15
ENST00000378588.4:c.597_604dup	ENSP00000367851.4:p.Phe202CysfsTer15
ENST00000465127.1:c.171+370064_171+370071dup	ENSP00000417050.1:n.171+370064_171+370071dup
NM_000397.3:c.597_604dup , LRG_53t1:c.597_604dup	NP_000388.2:p.Phe202CysfsTer15
XM_011543890.1:c.291_298dup	XP_011542192.1:p.Phe100CysfsTer15
NM_000397.4:c.597_604dup MANE Select	NP_000388.2:p.Phe202CysfsTer15