Canonical Allele Identifier: CA1963422244

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916520_34916524delinsTGGGG , CM000673.2:g.34916520_34916524delinsTGGGG	GRCh38
NC_000011.9:g.34938067_34938071delinsTGGGG , CM000673.1:g.34938067_34938071delinsTGGGG	GRCh37
NC_000011.8:g.34894643_34894647delinsTGGGG	NCBI36
NG_013368.1:g.5391_5395delinsTGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+34_-21+38delinsTGGGG	ENSP00000389404.3:n.-21+34_-21+38delinsTGGGG
ENST00000448838.7:c.115+34_115+38delinsTGGGG	ENSP00000389404.2:n.115+34_115+38delinsTGGGG
ENST00000533550.5:c.-21+582_-21+586delinsTGGGG	ENSP00000431281.1:n.-21+582_-21+586delinsTGGGG
NM_001135024.1:c.115+34_115+38delinsTGGGG	NP_001128496.1:n.115+34_115+38delinsTGGGG
NM_001166158.1:c.-136_-132delinsTGGGG	NP_001159630.1:n.-136_-132delinsTGGGG
NM_003477.2:c.-136_-132delinsTGGGG	NP_003468.2:n.-136_-132delinsTGGGG
XM_011520390.1:c.-21+582_-21+586delinsTGGGG	XP_011518692.1:n.-21+582_-21+586delinsTGGGG
NM_001135024.2:c.-21+34_-21+38delinsTGGGG	NP_001128496.2:n.-21+34_-21+38delinsTGGGG