Canonical Allele Identifier: CA2241199478

Gene: CYBA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643309_88643319delinsTTGCAGGTGGG , CM000678.2:g.88643309_88643319delinsTTGCAGGTGGG	GRCh38
NC_000016.9:g.88709717_88709727delinsTTGCAGGTGGG , CM000678.1:g.88709717_88709727delinsTTGCAGGTGGG	GRCh37
NC_000016.8:g.87237218_87237228delinsTTGCAGGTGGG	NCBI36
NG_007291.1:g.12731_12741delinsCCCACCTGCAA , LRG_52:g.12731_12741delinsCCCACCTGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.*34_*44delinsCCCACCTGCAA	ENSP00000512446.1:n.*34_*44delinsCCCACCTGCAA
ENST00000696157.1:c.*839_*849delinsCCCACCTGCAA	ENSP00000512447.1:n.*839_*849delinsCCCACCTGCAA
ENST00000696158.1:c.*876_*886delinsCCCACCTGCAA	ENSP00000512448.1:n.*876_*886delinsCCCACCTGCAA
ENST00000696159.1:c.*545_*555delinsCCCACCTGCAA	ENSP00000512449.1:n.*545_*555delinsCCCACCTGCAA
ENST00000696160.1:c.*34_*44delinsCCCACCTGCAA	ENSP00000512450.1:n.*34_*44delinsCCCACCTGCAA
ENST00000696161.1:c.752_762delinsCCCACCTGCAA	ENSP00000512451.1:p.Thr251=
ENST00000696162.1:c.*1341_*1351delinsCCCACCTGCAA	ENSP00000512452.1:n.*1341_*1351delinsCCCACCTGCAA
ENST00000696163.1:c.*34_*44delinsCCCACCTGCAA	ENSP00000512453.1:n.*34_*44delinsCCCACCTGCAA
ENST00000261623.8:c.*34_*44delinsCCCACCTGCAA MANE Select	ENSP00000261623.3:n.*34_*44delinsCCCACCTGCAA
ENST00000261623.7:c.*34_*44delinsCCCACCTGCAA	ENSP00000261623.3:n.*34_*44delinsCCCACCTGCAA
NM_000101.3:c.*34_*44delinsCCCACCTGCAA	NP_000092.2:n.*34_*44delinsCCCACCTGCAA
NM_000101.4:c.*34_*44delinsCCCACCTGCAA MANE Select	NP_000092.2:n.*34_*44delinsCCCACCTGCAA