Canonical Allele Identifier: CA2820471542
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796130_37796131insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT , CM000685.2:g.37796130_37796131insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT GRCh38
NC_000023.10:g.37655383_37655384insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT , CM000685.1:g.37655383_37655384insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT GRCh37
NC_000023.9:g.37540323_37540324insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT NCBI36
NG_009065.1:g.21110_21111insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT , LRG_53:g.21110_21111insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*172_*173insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT ENSP00000512461.1:n.*172_*173insTGGTTCGAAGGCGTCGGTGTTGTACTTAC...
ENST00000696171.1:c.567_568insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT ENSP00000512462.1:p.His190TrpfsTer36
ENST00000696172.1:c.338-2825_338-2824insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT ENSP00000512463.1:n.338-2825_338-2824insTGGTTCGAAGGCGTCGGTGTT...
ENST00000378588.5:c.663_664insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT MANE Select ENSP00000367851.4:p.His222TrpfsTer36
ENST00000378588.4:c.663_664insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT ENSP00000367851.4:p.His222TrpfsTer36
ENST00000465127.1:c.171+370130_171+370131insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT ENSP00000417050.1:n.171+370130_171+370131insTGGTTCGAAGGCGTCGG...
NM_000397.3:c.663_664insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT , LRG_53t1:c.663_664insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT NP_000388.2:p.His222TrpfsTer36
XM_011543890.1:c.357_358insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT XP_011542192.1:p.His120TrpfsTer36
NM_000397.4:c.663_664insTGGTTCGAAGGCGTCGGTGTTGTACTTACCGCTCTGGCCCTTTTCCT MANE Select NP_000388.2:p.His222TrpfsTer36