Canonical Allele Identifier: CA2695233199

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37805024_37805036del , CM000685.2:g.37805024_37805036del	GRCh38
NC_000023.10:g.37664277_37664289del , CM000685.1:g.37664277_37664289del	GRCh37
NC_000023.9:g.37549221_37549233del	NCBI36
NG_009065.1:g.30008_30020del , LRG_53:g.30008_30020del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*679_*691del	ENSP00000512461.1:n.*679_*691del
ENST00000696171.1:c.1074_1086del	ENSP00000512462.1:p.Phe359ValfsTer10
ENST00000378588.5:c.1170_1182del MANE Select	ENSP00000367851.4:p.Phe391ValfsTer10
ENST00000378588.4:c.1170_1182del	ENSP00000367851.4:p.Phe391ValfsTer10
ENST00000465127.1:c.171+379024_171+379036del	ENSP00000417050.1:n.171+379024_171+379036del
NM_000397.3:c.1170_1182del , LRG_53t1:c.1170_1182del	NP_000388.2:p.Phe391ValfsTer10
XM_011543890.1:c.864_876del	XP_011542192.1:p.Phe289ValfsTer10
NM_000397.4:c.1170_1182del MANE Select	NP_000388.2:p.Phe391ValfsTer10