Canonical Allele Identifier: CA2820471533
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796121_37796122insGTTGTT , CM000685.2:g.37796121_37796122insGTTGTT GRCh38
NC_000023.10:g.37655374_37655375insGTTGTT , CM000685.1:g.37655374_37655375insGTTGTT GRCh37
NC_000023.9:g.37540314_37540315insGTTGTT NCBI36
NG_009065.1:g.21101_21102insGTTGTT , LRG_53:g.21101_21102insGTTGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*163_*164insGTTGTT ENSP00000512461.1:n.*163_*164insGTTGTT
ENST00000696171.1:c.558_559insGTTGTT ENSP00000512462.1:p.Gly186_Leu187insValVal
ENST00000696172.1:c.338-2834_338-2833insGTTGTT ENSP00000512463.1:n.338-2834_338-2833insGTTGTT
ENST00000378588.5:c.654_655insGTTGTT MANE Select ENSP00000367851.4:p.Gly218_Leu219insValVal
ENST00000378588.4:c.654_655insGTTGTT ENSP00000367851.4:p.Gly218_Leu219insValVal
ENST00000465127.1:c.171+370121_171+370122insGTTGTT ENSP00000417050.1:n.171+370121_171+370122insGTTGTT
NM_000397.3:c.654_655insGTTGTT , LRG_53t1:c.654_655insGTTGTT NP_000388.2:p.Gly218_Leu219insValVal
XM_011543890.1:c.348_349insGTTGTT XP_011542192.1:p.Gly116_Leu117insValVal
NM_000397.4:c.654_655insGTTGTT MANE Select NP_000388.2:p.Gly218_Leu219insValVal