Canonical Allele Identifier: CA2695232454

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783579_37783580insGAGG , CM000685.2:g.37783579_37783580insGAGG	GRCh38
NC_000023.10:g.37642832_37642833insGAGG , CM000685.1:g.37642832_37642833insGAGG	GRCh37
NC_000023.9:g.37527776_37527777insGAGG	NCBI36
NG_009065.1:g.8563_8564insGAGG , LRG_53:g.8563_8564insGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.231_232insGAGG	ENSP00000512461.1:p.Phe78GlufsTer26
ENST00000696171.1:c.135_136insGAGG	ENSP00000512462.1:p.Phe46GlufsTer26
ENST00000696172.1:c.231_232insGAGG	ENSP00000512463.1:p.Phe78GlufsTer26
ENST00000696173.1:n.239_240insGAGG
ENST00000378588.5:c.231_232insGAGG MANE Select	ENSP00000367851.4:p.Phe78GlufsTer26
ENST00000378588.4:c.231_232insGAGG	ENSP00000367851.4:p.Phe78GlufsTer26
ENST00000465127.1:c.171+357579_171+357580insGAGG	ENSP00000417050.1:n.171+357579_171+357580insGAGG
NM_000397.3:c.231_232insGAGG , LRG_53t1:c.231_232insGAGG	NP_000388.2:p.Phe78GlufsTer26
XM_011543890.1:c.-200_-199insGAGG	XP_011542192.1:n.-200_-199insGAGG
NM_000397.4:c.231_232insGAGG MANE Select	NP_000388.2:p.Phe78GlufsTer26