Canonical Allele Identifier: CA2543867782
Gene: DUOX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45108830_45108831insT , CM000677.2:g.45108830_45108831insT GRCh38
NC_000015.9:g.45401028_45401029insT , CM000677.1:g.45401028_45401029insT GRCh37
NC_000015.8:g.43188320_43188321insT NCBI36
NG_009447.1:g.10331_10332insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000389039.11:c.1356_1357insA MANE Select ENSP00000373691.7:p.Pro453ThrfsTer6
ENST00000389039.10:c.1356_1357insA ENSP00000373691.6:p.Pro453ThrfsTer6
ENST00000558383.1:n.2521_2522insA
ENST00000603300.1:c.1356_1357insA ENSP00000475084.1:p.Pro453ThrfsTer6
NM_014080.4:c.1356_1357insA NP_054799.4:p.Pro453ThrfsTer6
XM_005254421.2:c.1356_1357insA XP_005254478.1:p.Pro453ThrfsTer6
NM_001363711.1:c.1356_1357insA NP_001350640.1:p.Pro453ThrfsTer6
NM_001363711.2:c.1356_1357insA MANE Select NP_001350640.1:p.Pro453ThrfsTer6
NM_014080.5:c.1356_1357insA NP_054799.4:p.Pro453ThrfsTer6