Canonical Allele Identifier: CA2695233076
Gene: CYBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796133_37796141del , CM000685.2:g.37796133_37796141del GRCh38
NC_000023.10:g.37655386_37655394del , CM000685.1:g.37655386_37655394del GRCh37
NC_000023.9:g.37540326_37540334del NCBI36
NG_009065.1:g.21113_21121del , LRG_53:g.21113_21121del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*175_*183del ENSP00000512461.1:n.*175_*183del
ENST00000696171.1:c.570_578del ENSP00000512462.1:p.His190_Glu193delinsGln
ENST00000696172.1:c.338-2822_338-2814del ENSP00000512463.1:n.338-2822_338-2814del
ENST00000378588.5:c.666_674del MANE Select ENSP00000367851.4:p.His222_Glu225delinsGln
ENST00000378588.4:c.666_674del ENSP00000367851.4:p.His222_Glu225delinsGln
ENST00000465127.1:c.171+370133_171+370141del ENSP00000417050.1:n.171+370133_171+370141del
NM_000397.3:c.666_674del , LRG_53t1:c.666_674del NP_000388.2:p.His222_Glu225delinsGln
XM_011543890.1:c.360_368del XP_011542192.1:p.His120_Glu123delinsGln
NM_000397.4:c.666_674del MANE Select NP_000388.2:p.His222_Glu225delinsGln
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