Canonical Allele Identifier: CA3001241416

Gene: CYBA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643557dup , CM000678.2:g.88643557dup	GRCh38
NC_000016.9:g.88709965dup , CM000678.1:g.88709965dup	GRCh37
NC_000016.8:g.87237466dup	NCBI36
NG_007291.1:g.12493dup , LRG_52:g.12493dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000101.4:c.384dup MANE Select	NP_000092.2:p.Glu129ArgfsTer?
ENST00000261623.8:c.384dup MANE Select	ENSP00000261623.3:p.Glu129ArgfsTer?
NM_000101.3:c.384dup	NP_000092.2:p.Glu129ArgfsTer?
ENST00000261623.7:c.384dup	ENSP00000261623.3:p.Glu129ArgfsTer?
ENST00000565588.5:c.178dup
ENST00000565588.6:c.394dup	ENSP00000455537.2:p.Arg132ProfsTer?
ENST00000566229.1:c.373dup	ENSP00000457060.1:p.Arg125ProfsTer?
ENST00000566534.5:n.963dup
ENST00000696156.1:c.300dup	ENSP00000512446.1:p.Glu101ArgfsTer?
ENST00000696157.1:c.*601dup	ENSP00000512447.1:n.*601dup
ENST00000696158.1:c.*638dup	ENSP00000512448.1:n.*638dup
ENST00000696159.1:c.*307dup	ENSP00000512449.1:n.*307dup
ENST00000696160.1:c.411dup	ENSP00000512450.1:p.Glu138ArgfsTer?
ENST00000696161.1:c.514dup	ENSP00000512451.1:p.Arg172ProfsTer?
ENST00000696162.1:c.*1103dup	ENSP00000512452.1:n.*1103dup
ENST00000696163.1:c.333dup	ENSP00000512453.1:p.Glu112ArgfsTer?