Canonical Allele Identifier: CA2579582785
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783557del , CM000685.2:g.37783557del GRCh38
NC_000023.10:g.37642810del , CM000685.1:g.37642810del GRCh37
NC_000023.9:g.37527754del NCBI36
NG_009065.1:g.8541del , LRG_53:g.8541del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.209del ENSP00000512461.1:p.Pro70GlnfsTer?
ENST00000696171.1:c.113del ENSP00000512462.1:p.Pro38GlnfsTer?
ENST00000696172.1:c.209del ENSP00000512463.1:p.Pro70GlnfsTer?
ENST00000696173.1:n.217del
ENST00000378588.5:c.209del MANE Select ENSP00000367851.4:p.Pro70GlnfsTer?
ENST00000378588.4:c.209del ENSP00000367851.4:p.Pro70GlnfsTer?
ENST00000465127.1:c.171+357557del ENSP00000417050.1:n.171+357557del
NM_000397.3:c.209del , LRG_53t1:c.209del NP_000388.2:p.Pro70GlnfsTer?
XM_011543890.1:c.-222del XP_011542192.1:n.-222del
NM_000397.4:c.209del MANE Select NP_000388.2:p.Pro70GlnfsTer?