Canonical Allele Identifier: CA2739273454

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2839646
• ClinVar RCV Id: RCV003623038

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37795992dup , CM000685.2:g.37795992dup	GRCh38
NC_000023.10:g.37655245dup , CM000685.1:g.37655245dup	GRCh37
NC_000023.9:g.37540185dup	NCBI36
NG_009065.1:g.20972dup , LRG_53:g.20972dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*34dup	ENSP00000512461.1:n.*34dup
ENST00000696171.1:c.429dup	ENSP00000512462.1:p.Gly144ArgfsTer28
ENST00000696172.1:c.338-2963dup	ENSP00000512463.1:n.338-2963dup
ENST00000378588.5:c.525dup MANE Select	ENSP00000367851.4:p.Gly176ArgfsTer28
ENST00000378588.4:c.525dup	ENSP00000367851.4:p.Gly176ArgfsTer28
ENST00000465127.1:c.171+369992dup	ENSP00000417050.1:n.171+369992dup
NM_000397.3:c.525dup , LRG_53t1:c.525dup	NP_000388.2:p.Gly176ArgfsTer28
XM_011543890.1:c.219dup	XP_011542192.1:p.Gly74ArgfsTer28
NM_000397.4:c.525dup MANE Select	NP_000388.2:p.Gly176ArgfsTer28