Canonical Allele Identifier: CA2695232448

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783562_37783565del , CM000685.2:g.37783562_37783565del	GRCh38
NC_000023.10:g.37642815_37642818del , CM000685.1:g.37642815_37642818del	GRCh37
NC_000023.9:g.37527759_37527762del	NCBI36
NG_009065.1:g.8546_8549del , LRG_53:g.8546_8549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.214_217del	ENSP00000512461.1:p.Cys72GlufsTer?
ENST00000696171.1:c.118_121del	ENSP00000512462.1:p.Cys40GlufsTer?
ENST00000696172.1:c.214_217del	ENSP00000512463.1:p.Cys72GlufsTer?
ENST00000696173.1:n.222_225del
ENST00000378588.5:c.214_217del MANE Select	ENSP00000367851.4:p.Cys72GlufsTer?
ENST00000378588.4:c.214_217del	ENSP00000367851.4:p.Cys72GlufsTer?
ENST00000465127.1:c.171+357562_171+357565del	ENSP00000417050.1:n.171+357562_171+357565del
NM_000397.3:c.214_217del , LRG_53t1:c.214_217del	NP_000388.2:p.Cys72GlufsTer?
XM_011543890.1:c.-217_-214del	XP_011542192.1:n.-217_-214del
NM_000397.4:c.214_217del MANE Select	NP_000388.2:p.Cys72GlufsTer?