Canonical Allele Identifier: CA2579582827
Gene: CYBB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803880del , CM000685.2:g.37803880del GRCh38
NC_000023.10:g.37663133del , CM000685.1:g.37663133del GRCh37
NC_000023.9:g.37548077del NCBI36
NG_009065.1:g.28864del , LRG_53:g.28864del

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*410del ENSP00000512461.1:n.*410del
ENST00000696171.1:c.805del ENSP00000512462.1:p.Val269SerfsTer12
ENST00000378588.5:c.901del MANE Select ENSP00000367851.4:p.Val301SerfsTer12
ENST00000378588.4:c.901del ENSP00000367851.4:p.Val301SerfsTer12
ENST00000465127.1:c.171+377880del ENSP00000417050.1:n.171+377880del
ENST00000492288.1:n.326del
NM_000397.3:c.901del , LRG_53t1:c.901del NP_000388.2:p.Val301SerfsTer12
XM_011543890.1:c.595del XP_011542192.1:p.Val199SerfsTer12
NM_000397.4:c.901del MANE Select NP_000388.2:p.Val301SerfsTer12
Search 100 bp 5'
Search 100 bp 3'