Canonical Allele Identifier: CA1963455923

Gene: PDHX APIP

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916458_34916459delinsAT , CM000673.2:g.34916458_34916459delinsAT	GRCh38
NC_000011.9:g.34938005_34938006delinsAT , CM000673.1:g.34938005_34938006delinsAT	GRCh37
NC_000011.8:g.34894581_34894582delinsAT	NCBI36
NG_013368.1:g.5329_5330delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-49_-48delinsAT (PDHX)	ENSP00000389404.3:n.-49_-48delinsAT
ENST00000395787.3:c.-175_-174delinsAT (APIP)	ENSP00000379133.3:n.-175_-174delinsAT
ENST00000448838.7:c.87_88delinsAT (PDHX)	ENSP00000389404.2:p.Ile29=
ENST00000533550.5:c.-21+520_-21+521delinsAT (PDHX)	ENSP00000431281.1:n.-21+520_-21+521delinsAT
NM_001135024.1:c.87_88delinsAT (PDHX)	NP_001128496.1:p.Ile29=
NM_001166158.1:c.-198_-197delinsAT (PDHX)	NP_001159630.1:n.-198_-197delinsAT
NM_003477.2:c.-198_-197delinsAT (PDHX)	NP_003468.2:n.-198_-197delinsAT
XM_011520390.1:c.-21+520_-21+521delinsAT (PDHX)	XP_011518692.1:n.-21+520_-21+521delinsAT
NM_001135024.2:c.-49_-48delinsAT (PDHX)	NP_001128496.2:n.-49_-48delinsAT