Canonical Allele Identifier: CA2723615443

Gene: PDHX

Linked Data

• dbSNP Id: rs2134009425

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34995917_34995920dup , CM000673.2:g.34995917_34995920dup	GRCh38
NC_000011.9:g.35017464_35017467dup , CM000673.1:g.35017464_35017467dup	GRCh37
NC_000011.8:g.34974040_34974043dup	NCBI36
NG_013368.1:g.84788_84791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.*745_*748dup	ENSP00000389404.3:n.*745_*748dup
ENST00000227868.9:c.*745_*748dup MANE Select	ENSP00000227868.4:n.*745_*748dup
ENST00000227868.8:c.*745_*748dup	ENSP00000227868.4:n.*745_*748dup
ENST00000448838.7:c.*745_*748dup	ENSP00000389404.2:n.*745_*748dup
ENST00000477173.3:n.161+3538_161+3541dup
NM_001135024.1:c.*745_*748dup	NP_001128496.1:n.*745_*748dup
NM_001166158.1:c.*745_*748dup	NP_001159630.1:n.*745_*748dup
NM_003477.2:c.*745_*748dup	NP_003468.2:n.*745_*748dup
XM_011520390.1:c.*745_*748dup	XP_011518692.1:n.*745_*748dup
NM_003477.3:c.*745_*748dup MANE Select	NP_003468.2:n.*745_*748dup
NM_001135024.2:c.*745_*748dup	NP_001128496.2:n.*745_*748dup
NM_001166158.2:c.*745_*748dup	NP_001159630.1:n.*745_*748dup