Canonical Allele Identifier: CA2424680433
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 957655
ClinVar RCV Id: RCV001230670
dbSNP Id: rs1929302971
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796113_37796115del , CM000685.2:g.37796113_37796115del GRCh38
NC_000023.10:g.37655366_37655368del , CM000685.1:g.37655366_37655368del GRCh37
NC_000023.9:g.37540306_37540308del NCBI36
NG_009065.1:g.21093_21095del , LRG_53:g.21093_21095del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*155_*157del ENSP00000512461.1:n.*155_*157del
ENST00000696171.1:c.550_552del ENSP00000512462.1:p.Phe184del
ENST00000696172.1:c.338-2842_338-2840del ENSP00000512463.1:n.338-2842_338-2840del
ENST00000378588.5:c.646_648del MANE Select ENSP00000367851.4:p.Phe216del
ENST00000378588.4:c.646_648del ENSP00000367851.4:p.Phe216del
ENST00000465127.1:c.171+370113_171+370115del ENSP00000417050.1:n.171+370113_171+370115del
NM_000397.3:c.646_648del , LRG_53t1:c.646_648del NP_000388.2:p.Phe216del
XM_011543890.1:c.340_342del XP_011542192.1:p.Phe114del
NM_000397.4:c.646_648del MANE Select NP_000388.2:p.Phe216del
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