Canonical Allele Identifier: CA2695233160

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804011del , CM000685.2:g.37804011del	GRCh38
NC_000023.10:g.37663264del , CM000685.1:g.37663264del	GRCh37
NC_000023.9:g.37548208del	NCBI36
NG_009065.1:g.28995del , LRG_53:g.28995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*541del	ENSP00000512461.1:n.*541del
ENST00000696171.1:c.936del	ENSP00000512462.1:p.Ala313ProfsTer?
ENST00000378588.5:c.1032del MANE Select	ENSP00000367851.4:p.Ala345ProfsTer?
ENST00000378588.4:c.1032del	ENSP00000367851.4:p.Ala345ProfsTer?
ENST00000465127.1:c.171+378011del	ENSP00000417050.1:n.171+378011del
ENST00000492288.1:n.457del
NM_000397.3:c.1032del , LRG_53t1:c.1032del	NP_000388.2:p.Ala345ProfsTer?
XM_011543890.1:c.726del	XP_011542192.1:p.Ala243ProfsTer?
NM_000397.4:c.1032del MANE Select	NP_000388.2:p.Ala345ProfsTer?