Canonical Allele Identifier: CA2697553036

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2694032
• ClinVar RCV Id: RCV003509869

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804100del , CM000685.2:g.37804100del	GRCh38
NC_000023.10:g.37663353del , CM000685.1:g.37663353del	GRCh37
NC_000023.9:g.37548297del	NCBI36
NG_009065.1:g.29084del , LRG_53:g.29084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*630del	ENSP00000512461.1:n.*630del
ENST00000696171.1:c.1025del	ENSP00000512462.1:p.Gln342ArgfsTer12
ENST00000378588.5:c.1121del MANE Select	ENSP00000367851.4:p.Gln374ArgfsTer12
ENST00000378588.4:c.1121del	ENSP00000367851.4:p.Gln374ArgfsTer12
ENST00000465127.1:c.171+378100del	ENSP00000417050.1:n.171+378100del
NM_000397.3:c.1121del , LRG_53t1:c.1121del	NP_000388.2:p.Gln374ArgfsTer12
XM_011543890.1:c.815del	XP_011542192.1:p.Gln272ArgfsTer12
NM_000397.4:c.1121del MANE Select	NP_000388.2:p.Gln374ArgfsTer12