Canonical Allele Identifier: CA2695233100
Gene: CYBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37799022del , CM000685.2:g.37799022del GRCh38
NC_000023.10:g.37658275del , CM000685.1:g.37658275del GRCh37
NC_000023.9:g.37543215del NCBI36
NG_009065.1:g.24002del , LRG_53:g.24002del

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*251del ENSP00000512461.1:n.*251del
ENST00000696171.1:c.646del ENSP00000512462.1:p.Ile216SerfsTer7
ENST00000696172.1:c.*18del ENSP00000512463.1:n.*18del
ENST00000378588.5:c.742del MANE Select ENSP00000367851.4:p.Ile248SerfsTer7
ENST00000378588.4:c.742del ENSP00000367851.4:p.Ile248SerfsTer7
ENST00000465127.1:c.171+373022del ENSP00000417050.1:n.171+373022del
ENST00000492288.1:n.167del
NM_000397.3:c.742del , LRG_53t1:c.742del NP_000388.2:p.Ile248SerfsTer7
XM_011543890.1:c.436del XP_011542192.1:p.Ile146SerfsTer7
NM_000397.4:c.742del MANE Select NP_000388.2:p.Ile248SerfsTer7
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