Canonical Allele Identifier: CA2695233073

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796092_37796093del , CM000685.2:g.37796092_37796093del	GRCh38
NC_000023.10:g.37655345_37655346del , CM000685.1:g.37655345_37655346del	GRCh37
NC_000023.9:g.37540285_37540286del	NCBI36
NG_009065.1:g.21072_21073del , LRG_53:g.21072_21073del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*134_*135del	ENSP00000512461.1:n.*134_*135del
ENST00000696171.1:c.529_530del	ENSP00000512462.1:p.His177SerfsTer16
ENST00000696172.1:c.338-2863_338-2862del	ENSP00000512463.1:n.338-2863_338-2862del
ENST00000378588.5:c.625_626del MANE Select	ENSP00000367851.4:p.His209SerfsTer16
ENST00000378588.4:c.625_626del	ENSP00000367851.4:p.His209SerfsTer16
ENST00000465127.1:c.171+370092_171+370093del	ENSP00000417050.1:n.171+370092_171+370093...
NM_000397.3:c.625_626del , LRG_53t1:c.625_626del	NP_000388.2:p.His209SerfsTer16
XM_011543890.1:c.319_320del	XP_011542192.1:p.His107SerfsTer16
NM_000397.4:c.625_626del MANE Select	NP_000388.2:p.His209SerfsTer16