Canonical Allele Identifier: CA115351

Gene: PDHX

Linked Data

• ClinVar Variation Id: 2112
• ClinVar RCV Id: RCV000002193
• dbSNP Id: rs1554989996
• MyVariant Identifiers: chr11:g.34999671_34999729del (hg19) ; chr11:g.34978124_34978182del (hg38)
• PubMed: PMID:8229524 ; PMID:9399911

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34978124_34978182del , CM000673.2:g.34978124_34978182del	GRCh38
NC_000011.9:g.34999671_34999729del , CM000673.1:g.34999671_34999729del	GRCh37
NC_000011.8:g.34956247_34956305del	NCBI36
NG_013368.1:g.66995_67053del

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.785_843del	ENSP00000389404.3:p.Asp262AlafsTer6
ENST00000227868.9:c.965_1023del MANE Select	ENSP00000227868.4:p.Asp322AlafsTer6
ENST00000227868.8:c.965_1023del	ENSP00000227868.4:p.Asp322AlafsTer6
ENST00000430469.6:c.343-6446_343-6388del	ENSP00000415695.2:n.343-6446_343-6388del
ENST00000448838.7:c.920_978del	ENSP00000389404.2:p.Asp307AlafsTer6
ENST00000526309.1:c.28_86del
ENST00000532159.1:n.190_248del
NM_001135024.1:c.920_978del	NP_001128496.1:p.Asp307AlafsTer6
NM_001166158.1:c.343-6446_343-6388del	NP_001159630.1:n.343-6446_343-6388del
NM_003477.2:c.965_1023del	NP_003468.2:p.Asp322AlafsTer6
XM_011520390.1:c.785_843del	XP_011518692.1:p.Asp262AlafsTer6
NM_003477.3:c.965_1023del MANE Select	NP_003468.2:p.Asp322AlafsTer6
NM_001135024.2:c.785_843del	NP_001128496.2:p.Asp262AlafsTer6
NM_001166158.2:c.343-6446_343-6388del	NP_001159630.1:n.343-6446_343-6388del