Canonical Allele Identifier: CA10603663

Gene: CYBB

Linked Data

• ClinVar Variation Id: 280000
• ClinVar RCV Id: RCV000317739
• dbSNP Id: rs886041312
• MyVariant Identifiers: chrX:g.37655285_37655288del (hg19) ; chrX:g.37796032_37796035del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796032_37796035del , CM000685.2:g.37796032_37796035del	GRCh38
NC_000023.10:g.37655285_37655288del , CM000685.1:g.37655285_37655288del	GRCh37
NC_000023.9:g.37540225_37540228del	NCBI36
NG_009065.1:g.21012_21015del , LRG_53:g.21012_21015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*74_*77del	ENSP00000512461.1:n.*74_*77del
ENST00000696171.1:c.469_472del	ENSP00000512462.1:p.Ile157SerfsTer24
ENST00000696172.1:c.338-2923_338-2920del	ENSP00000512463.1:n.338-2923_338-2920del
ENST00000378588.5:c.565_568del MANE Select	ENSP00000367851.4:p.Ile189SerfsTer24
ENST00000378588.4:c.565_568del	ENSP00000367851.4:p.Ile189SerfsTer24
ENST00000465127.1:c.171+370032_171+370035del	ENSP00000417050.1:n.171+370032_171+370035del
NM_000397.3:c.565_568del , LRG_53t1:c.565_568del	NP_000388.2:p.Ile189SerfsTer24
XM_011543890.1:c.259_262del	XP_011542192.1:p.Ile87SerfsTer24
NM_000397.4:c.565_568del MANE Select	NP_000388.2:p.Ile189SerfsTer24