Canonical Allele Identifier: CA2695233061
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796028_37796036del , CM000685.2:g.37796028_37796036del GRCh38
NC_000023.10:g.37655281_37655289del , CM000685.1:g.37655281_37655289del GRCh37
NC_000023.9:g.37540221_37540229del NCBI36
NG_009065.1:g.21008_21016del , LRG_53:g.21008_21016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*70_*78del ENSP00000512461.1:n.*70_*78del
ENST00000696171.1:c.465_473del ENSP00000512462.1:p.Leu156_Ile158del
ENST00000696172.1:c.338-2927_338-2919del ENSP00000512463.1:n.338-2927_338-2919del
ENST00000378588.5:c.561_569del MANE Select ENSP00000367851.4:p.Leu188_Ile190del
ENST00000378588.4:c.561_569del ENSP00000367851.4:p.Leu188_Ile190del
ENST00000465127.1:c.171+370028_171+370036del ENSP00000417050.1:n.171+370028_171+370036del
NM_000397.3:c.561_569del , LRG_53t1:c.561_569del NP_000388.2:p.Leu188_Ile190del
XM_011543890.1:c.255_263del XP_011542192.1:p.Leu86_Ile88del
NM_000397.4:c.561_569del MANE Select NP_000388.2:p.Leu188_Ile190del