Canonical Allele Identifier: CA2695233075

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796103del , CM000685.2:g.37796103del	GRCh38
NC_000023.10:g.37655356del , CM000685.1:g.37655356del	GRCh37
NC_000023.9:g.37540296del	NCBI36
NG_009065.1:g.21083del , LRG_53:g.21083del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*145del	ENSP00000512461.1:n.*145del
ENST00000696171.1:c.540del	ENSP00000512462.1:p.Phe180LeufsTer2
ENST00000696172.1:c.338-2852del	ENSP00000512463.1:n.338-2852del
ENST00000378588.5:c.636del MANE Select	ENSP00000367851.4:p.Phe212LeufsTer2
ENST00000378588.4:c.636del	ENSP00000367851.4:p.Phe212LeufsTer2
ENST00000465127.1:c.171+370103del	ENSP00000417050.1:n.171+370103del
NM_000397.3:c.636del , LRG_53t1:c.636del	NP_000388.2:p.Phe212LeufsTer2
XM_011543890.1:c.330del	XP_011542192.1:p.Phe110LeufsTer2
NM_000397.4:c.636del MANE Select	NP_000388.2:p.Phe212LeufsTer2