Canonical Allele Identifier: CA2740097288

Gene: DUOX2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45108159_45108160delinsGG , CM000677.2:g.45108159_45108160delinsGG	GRCh38
NC_000015.9:g.45400357_45400358delinsGG , CM000677.1:g.45400357_45400358delinsGG	GRCh37
NC_000015.8:g.43187649_43187650delinsGG	NCBI36
NG_009447.1:g.11002_11003delinsCC

Transcript Alleles

HGVS	Amino-acid Change
NM_001363711.2:c.1461_1462delinsCC MANE Select	NP_001350640.1:p.Gly488Arg
ENST00000389039.11:c.1461_1462delinsCC MANE Select	ENSP00000373691.7:p.Gly488Arg
NM_001363711.1:c.1461_1462delinsCC	NP_001350640.1:p.Gly488Arg
NM_014080.4:c.1461_1462delinsCC	NP_054799.4:p.Gly488Arg
NM_014080.5:c.1461_1462delinsCC	NP_054799.4:p.Gly488Arg
ENST00000389039.10:c.1461_1462delinsCC	ENSP00000373691.6:p.Gly488Arg
ENST00000558383.1:n.3192_3193delinsCC
ENST00000603300.1:c.1461_1462delinsCC	ENSP00000475084.1:p.Gly488Arg
XM_005254421.2:c.1461_1462delinsCC	XP_005254478.1:p.Gly488Arg