Canonical Allele Identifier: CA2579582787
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783594del , CM000685.2:g.37783594del GRCh38
NC_000023.10:g.37642847del , CM000685.1:g.37642847del GRCh37
NC_000023.9:g.37527791del NCBI36
NG_009065.1:g.8578del , LRG_53:g.8578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.246del ENSP00000512461.1:p.Ser83ValfsTer25
ENST00000696171.1:c.150del ENSP00000512462.1:p.Ser51ValfsTer25
ENST00000696172.1:c.246del ENSP00000512463.1:p.Ser83ValfsTer25
ENST00000696173.1:n.254del
ENST00000378588.5:c.246del MANE Select ENSP00000367851.4:p.Ser83ValfsTer25
ENST00000378588.4:c.246del ENSP00000367851.4:p.Ser83ValfsTer25
ENST00000465127.1:c.171+357594del ENSP00000417050.1:n.171+357594del
NM_000397.3:c.246del , LRG_53t1:c.246del NP_000388.2:p.Ser83ValfsTer25
XM_011543890.1:c.-185del XP_011542192.1:n.-185del
NM_000397.4:c.246del MANE Select NP_000388.2:p.Ser83ValfsTer25