Canonical Allele Identifier: CA2695233099
Gene: CYBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37799017_37799018delinsC , CM000685.2:g.37799017_37799018delinsC GRCh38
NC_000023.10:g.37658270_37658271delinsC , CM000685.1:g.37658270_37658271delinsC GRCh37
NC_000023.9:g.37543210_37543211delinsC NCBI36
NG_009065.1:g.23997_23998delinsC , LRG_53:g.23997_23998delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*246_*247delinsC ENSP00000512461.1:n.*246_*247delinsC
ENST00000696171.1:c.641_642delinsC ENSP00000512462.1:p.Gln214ProfsTer9
ENST00000696172.1:c.*13_*14delinsC ENSP00000512463.1:n.*13_*14delinsC
ENST00000378588.5:c.737_738delinsC MANE Select ENSP00000367851.4:p.Gln246ProfsTer9
ENST00000378588.4:c.737_738delinsC ENSP00000367851.4:p.Gln246ProfsTer9
ENST00000465127.1:c.171+373017_171+373018delinsC ENSP00000417050.1:n.171+373017_171+373018delinsC
ENST00000492288.1:n.162_163delinsC
NM_000397.3:c.737_738delinsC , LRG_53t1:c.737_738delinsC NP_000388.2:p.Gln246ProfsTer9
XM_011543890.1:c.431_432delinsC XP_011542192.1:p.Gln144ProfsTer9
NM_000397.4:c.737_738delinsC MANE Select NP_000388.2:p.Gln246ProfsTer9
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