Canonical Allele Identifier: CA2695233136
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803882dup , CM000685.2:g.37803882dup GRCh38
NC_000023.10:g.37663135dup , CM000685.1:g.37663135dup GRCh37
NC_000023.9:g.37548079dup NCBI36
NG_009065.1:g.28866dup , LRG_53:g.28866dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*412dup ENSP00000512461.1:n.*412dup
ENST00000696171.1:c.807dup ENSP00000512462.1:p.Thr270HisfsTer?
ENST00000378588.5:c.903dup MANE Select ENSP00000367851.4:p.Thr302HisfsTer?
ENST00000378588.4:c.903dup ENSP00000367851.4:p.Thr302HisfsTer?
ENST00000465127.1:c.171+377882dup ENSP00000417050.1:n.171+377882dup
ENST00000492288.1:n.328dup
NM_000397.3:c.903dup , LRG_53t1:c.903dup NP_000388.2:p.Thr302HisfsTer?
XM_011543890.1:c.597dup XP_011542192.1:p.Thr200HisfsTer?
NM_000397.4:c.903dup MANE Select NP_000388.2:p.Thr302HisfsTer?