Canonical Allele Identifier: CA2579582989
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37795964del , CM000685.2:g.37795964del GRCh38
NC_000023.10:g.37655217del , CM000685.1:g.37655217del GRCh37
NC_000023.9:g.37540157del NCBI36
NG_009065.1:g.20944del , LRG_53:g.20944del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*6del ENSP00000512461.1:n.*6del
ENST00000696171.1:c.401del ENSP00000512462.1:p.Gly134AlafsTer6
ENST00000696172.1:c.338-2991del ENSP00000512463.1:n.338-2991del
ENST00000378588.5:c.497del MANE Select ENSP00000367851.4:p.Gly166AlafsTer6
ENST00000378588.4:c.497del ENSP00000367851.4:p.Gly166AlafsTer6
ENST00000465127.1:c.171+369964del ENSP00000417050.1:n.171+369964del
NM_000397.3:c.497del , LRG_53t1:c.497del NP_000388.2:p.Gly166AlafsTer6
XM_011543890.1:c.191del XP_011542192.1:p.Gly64AlafsTer6
NM_000397.4:c.497del MANE Select NP_000388.2:p.Gly166AlafsTer6