Canonical Allele Identifier: CA2574798099

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916819_34916822del , CM000673.2:g.34916819_34916822del	GRCh38
NC_000011.9:g.34938366_34938369del , CM000673.1:g.34938366_34938369del	GRCh37
NC_000011.8:g.34894942_34894945del	NCBI36
NG_013368.1:g.5690_5693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+333_-21+336del	ENSP00000389404.3:n.-21+333_-21+336del
ENST00000227868.9:c.160+4_160+7del MANE Select	ENSP00000227868.4:n.160+4_160+7del
ENST00000227868.8:c.160+4_160+7del	ENSP00000227868.4:n.160+4_160+7del
ENST00000430469.6:c.160+4_160+7del	ENSP00000415695.2:n.160+4_160+7del
ENST00000448838.7:c.115+333_115+336del	ENSP00000389404.2:n.115+333_115+336del
ENST00000533262.1:c.160+4_160+7del	ENSP00000432277.1:n.160+4_160+7del
ENST00000533550.5:c.-21+881_-21+884del	ENSP00000431281.1:n.-21+881_-21+884del
NM_001135024.1:c.115+333_115+336del	NP_001128496.1:n.115+333_115+336del
NM_001166158.1:c.160+4_160+7del	NP_001159630.1:n.160+4_160+7del
NM_003477.2:c.160+4_160+7del	NP_003468.2:n.160+4_160+7del
XM_011520390.1:c.-21+881_-21+884del	XP_011518692.1:n.-21+881_-21+884del
NM_003477.3:c.160+4_160+7del MANE Select	NP_003468.2:n.160+4_160+7del
NM_001135024.2:c.-21+333_-21+336del	NP_001128496.2:n.-21+333_-21+336del
NM_001166158.2:c.160+4_160+7del	NP_001159630.1:n.160+4_160+7del