Canonical Allele Identifier: CA2613092157

Gene: PDHX

Linked Data

• gnomAD v4: 11-34916744-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916749del , CM000673.2:g.34916749del	GRCh38
NC_000011.9:g.34938296del , CM000673.1:g.34938296del	GRCh37
NC_000011.8:g.34894872del	NCBI36
NG_013368.1:g.5620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+263del	ENSP00000389404.3:n.-21+263del
ENST00000227868.9:c.94del MANE Select	ENSP00000227868.4:p.Ala32LeufsTer6
ENST00000227868.8:c.94del	ENSP00000227868.4:p.Ala32LeufsTer6
ENST00000430469.6:c.94del	ENSP00000415695.2:p.Ala32LeufsTer6
ENST00000448838.7:c.115+263del	ENSP00000389404.2:n.115+263del
ENST00000533262.1:c.94del	ENSP00000432277.1:p.Ala32LeufsTer6
ENST00000533550.5:c.-21+811del	ENSP00000431281.1:n.-21+811del
NM_001135024.1:c.115+263del	NP_001128496.1:n.115+263del
NM_001166158.1:c.94del	NP_001159630.1:p.Ala32LeufsTer6
NM_003477.2:c.94del	NP_003468.2:p.Ala32LeufsTer6
XM_011520390.1:c.-21+811del	XP_011518692.1:n.-21+811del
NM_003477.3:c.94del MANE Select	NP_003468.2:p.Ala32LeufsTer6
NM_001135024.2:c.-21+263del	NP_001128496.2:n.-21+263del
NM_001166158.2:c.94del	NP_001159630.1:p.Ala32LeufsTer6