Canonical Allele Identifier: CA2695233157

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803995dup , CM000685.2:g.37803995dup	GRCh38
NC_000023.10:g.37663248dup , CM000685.1:g.37663248dup	GRCh37
NC_000023.9:g.37548192dup	NCBI36
NG_009065.1:g.28979dup , LRG_53:g.28979dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*525dup	ENSP00000512461.1:n.*525dup
ENST00000696171.1:c.920dup	ENSP00000512462.1:p.Thr309TyrfsTer7
ENST00000378588.5:c.1016dup MANE Select	ENSP00000367851.4:p.Thr341TyrfsTer7
ENST00000378588.4:c.1016dup	ENSP00000367851.4:p.Thr341TyrfsTer7
ENST00000465127.1:c.171+377995dup	ENSP00000417050.1:n.171+377995dup
ENST00000492288.1:n.441dup
NM_000397.3:c.1016dup , LRG_53t1:c.1016dup	NP_000388.2:p.Thr341TyrfsTer7
XM_011543890.1:c.710dup	XP_011542192.1:p.Thr239TyrfsTer7
NM_000397.4:c.1016dup MANE Select	NP_000388.2:p.Thr341TyrfsTer7