Canonical Allele Identifier: CA2499226677
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1070694
ClinVar RCV Id: RCV001382942
dbSNP Id: rs2146811730
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*74del ENSP00000512461.1:n.*74del
ENST00000696171.1:c.469del ENSP00000512462.1:p.Ile157LeufsTer25
ENST00000696172.1:c.338-2923del ENSP00000512463.1:n.338-2923del
ENST00000378588.5:c.565del MANE Select ENSP00000367851.4:p.Ile189LeufsTer25
ENST00000378588.4:c.565del ENSP00000367851.4:p.Ile189LeufsTer25
ENST00000465127.1:c.171+370032del ENSP00000417050.1:n.171+370032del
NM_000397.3:c.565del , LRG_53t1:c.565del NP_000388.2:p.Ile189LeufsTer25
XM_011543890.1:c.259del XP_011542192.1:p.Ile87LeufsTer25
NM_000397.4:c.565del MANE Select NP_000388.2:p.Ile189LeufsTer25
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