Canonical Allele Identifier: CA2695223833

Gene: CYBA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643555_88643558del , CM000678.2:g.88643555_88643558del	GRCh38
NC_000016.9:g.88709963_88709966del , CM000678.1:g.88709963_88709966del	GRCh37
NC_000016.8:g.87237464_87237467del	NCBI36
NG_007291.1:g.12494_12497del , LRG_52:g.12494_12497del

Transcript Alleles

HGVS	Amino-acid Change
NM_000101.4:c.385_388del MANE Select	NP_000092.2:p.Glu129SerfsTer?
ENST00000261623.8:c.385_388del MANE Select	ENSP00000261623.3:p.Glu129SerfsTer?
NM_000101.3:c.385_388del	NP_000092.2:p.Glu129SerfsTer?
ENST00000261623.7:c.385_388del	ENSP00000261623.3:p.Glu129SerfsTer?
ENST00000565588.5:c.179_182del
ENST00000565588.6:c.395_398del	ENSP00000455537.2:p.Arg132GlnfsTer?
ENST00000566229.1:c.374_377del	ENSP00000457060.1:p.Arg125GlnfsTer?
ENST00000566534.5:n.964_967del
ENST00000696156.1:c.301_304del	ENSP00000512446.1:p.Glu101SerfsTer?
ENST00000696157.1:c.*602_*605del	ENSP00000512447.1:n.*602_*605del
ENST00000696158.1:c.*639_*642del	ENSP00000512448.1:n.*639_*642del
ENST00000696159.1:c.*308_*311del	ENSP00000512449.1:n.*308_*311del
ENST00000696160.1:c.412_415del	ENSP00000512450.1:p.Glu138SerfsTer?
ENST00000696161.1:c.515_518del	ENSP00000512451.1:p.Arg172GlnfsTer?
ENST00000696162.1:c.*1104_*1107del	ENSP00000512452.1:n.*1104_*1107del
ENST00000696163.1:c.334_337del	ENSP00000512453.1:p.Glu112SerfsTer?