Canonical Allele Identifier: CA2695233072

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796085del , CM000685.2:g.37796085del	GRCh38
NC_000023.10:g.37655338del , CM000685.1:g.37655338del	GRCh37
NC_000023.9:g.37540278del	NCBI36
NG_009065.1:g.21065del , LRG_53:g.21065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*127del	ENSP00000512461.1:n.*127del
ENST00000696171.1:c.522del	ENSP00000512462.1:p.Trp174CysfsTer8
ENST00000696172.1:c.338-2870del	ENSP00000512463.1:n.338-2870del
ENST00000378588.5:c.618del MANE Select	ENSP00000367851.4:p.Trp206CysfsTer8
ENST00000378588.4:c.618del	ENSP00000367851.4:p.Trp206CysfsTer8
ENST00000465127.1:c.171+370085del	ENSP00000417050.1:n.171+370085del
NM_000397.3:c.618del , LRG_53t1:c.618del	NP_000388.2:p.Trp206CysfsTer8
XM_011543890.1:c.312del	XP_011542192.1:p.Trp104CysfsTer8
NM_000397.4:c.618del MANE Select	NP_000388.2:p.Trp206CysfsTer8