Canonical Allele Identifier: CA2695233141

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803900_37803901insGTTTC , CM000685.2:g.37803900_37803901insGTTTC	GRCh38
NC_000023.10:g.37663153_37663154insGTTTC , CM000685.1:g.37663153_37663154insGTTTC	GRCh37
NC_000023.9:g.37548097_37548098insGTTTC	NCBI36
NG_009065.1:g.28884_28885insGTTTC , LRG_53:g.28884_28885insGTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*430_*431insGTTTC	ENSP00000512461.1:n.*430_*431insGTTTC
ENST00000696171.1:c.825_826insGTTTC	ENSP00000512462.1:p.Ile276ValfsTer7
ENST00000378588.5:c.921_922insGTTTC MANE Select	ENSP00000367851.4:p.Ile308ValfsTer7
ENST00000378588.4:c.921_922insGTTTC	ENSP00000367851.4:p.Ile308ValfsTer7
ENST00000465127.1:c.171+377900_171+377901insGTTTC	ENSP00000417050.1:n.171+377900_171+377901insGTTTC
ENST00000492288.1:n.346_347insGTTTC
NM_000397.3:c.921_922insGTTTC , LRG_53t1:c.921_922insGTTTC	NP_000388.2:p.Ile308ValfsTer7
XM_011543890.1:c.615_616insGTTTC	XP_011542192.1:p.Ile206ValfsTer7
NM_000397.4:c.921_922insGTTTC MANE Select	NP_000388.2:p.Ile308ValfsTer7