Allele Registry

Canonical Allele Identifier: CA115355

Gene: PDHX HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr11:g.34960497del

GRCh37 chr11:g.34982044del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000002197

ClinVar Variation:

2116

dbSNP:

724159979

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34960497del , CM000673.2:g.34960497del	GRCh38
NC_000011.9:g.34982044del , CM000673.1:g.34982044del	GRCh37
NC_000011.8:g.34938620del	NCBI36
NG_013368.1:g.49368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.440del	ENSP00000389404.3:p.Pro147LeufsTer16
ENST00000227868.9:c.620del MANE Select	ENSP00000227868.4:p.Pro207LeufsTer16
ENST00000227868.8:c.620del	ENSP00000227868.4:p.Pro207LeufsTer16
ENST00000430469.6:c.342+12891del	ENSP00000415695.2:n.342+12891del
ENST00000448838.7:c.575del	ENSP00000389404.2:p.Pro192LeufsTer16
ENST00000533262.1:c.539del	ENSP00000432277.1:p.Pro180LeufsTer?
ENST00000533550.5:c.440del	ENSP00000431281.1:p.Pro147LeufsTer?
NM_001135024.1:c.575del	NP_001128496.1:p.Pro192LeufsTer16
NM_001166158.1:c.342+12891del	NP_001159630.1:n.342+12891del
NM_003477.2:c.620del	NP_003468.2:p.Pro207LeufsTer16
XM_011520390.1:c.440del	XP_011518692.1:p.Pro147LeufsTer16
NM_003477.3:c.620del MANE Select	NP_003468.2:p.Pro207LeufsTer16
NM_001135024.2:c.440del	NP_001128496.2:p.Pro147LeufsTer16
NM_001166158.2:c.342+12891del	NP_001159630.1:n.342+12891del

Search 100 bp 5'

Search 100 bp 3'