Canonical Allele Identifier: CA2695233063
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796035_37796040del , CM000685.2:g.37796035_37796040del GRCh38
NC_000023.10:g.37655288_37655293del , CM000685.1:g.37655288_37655293del GRCh37
NC_000023.9:g.37540228_37540233del NCBI36
NG_009065.1:g.21015_21020del , LRG_53:g.21015_21020del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*77_*82del ENSP00000512461.1:n.*77_*82del
ENST00000696171.1:c.472_477del ENSP00000512462.1:p.Ile158_Thr159del
ENST00000696172.1:c.338-2920_338-2915del ENSP00000512463.1:n.338-2920_338-2915del
ENST00000378588.5:c.568_573del MANE Select ENSP00000367851.4:p.Ile190_Thr191del
ENST00000378588.4:c.568_573del ENSP00000367851.4:p.Ile190_Thr191del
ENST00000465127.1:c.171+370035_171+370040del ENSP00000417050.1:n.171+370035_171+370040del
NM_000397.3:c.568_573del , LRG_53t1:c.568_573del NP_000388.2:p.Ile190_Thr191del
XM_011543890.1:c.262_267del XP_011542192.1:p.Ile88_Thr89del
NM_000397.4:c.568_573del MANE Select NP_000388.2:p.Ile190_Thr191del