Canonical Allele Identifier: CA2579582783
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783505del , CM000685.2:g.37783505del GRCh38
NC_000023.10:g.37642758del , CM000685.1:g.37642758del GRCh37
NC_000023.9:g.37527702del NCBI36
NG_009065.1:g.8489del , LRG_53:g.8489del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.157del ENSP00000512461.1:p.Ala53ProfsTer8
ENST00000696171.1:c.61del ENSP00000512462.1:p.Ala21ProfsTer8
ENST00000696172.1:c.157del ENSP00000512463.1:p.Ala53ProfsTer8
ENST00000696173.1:n.165del
ENST00000378588.5:c.157del MANE Select ENSP00000367851.4:p.Ala53ProfsTer8
ENST00000378588.4:c.157del ENSP00000367851.4:p.Ala53ProfsTer8
ENST00000465127.1:c.171+357505del ENSP00000417050.1:n.171+357505del
NM_000397.3:c.157del , LRG_53t1:c.157del NP_000388.2:p.Ala53ProfsTer8
XM_011543890.1:c.-274del XP_011542192.1:n.-274del
NM_000397.4:c.157del MANE Select NP_000388.2:p.Ala53ProfsTer8