Canonical Allele Identifier: CA2739268099

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2840986
• ClinVar RCV Id: RCV003623067

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358904_19358952dup , CM000685.2:g.19358904_19358952dup	GRCh38
NC_000023.10:g.19377022_19377070dup , CM000685.1:g.19377022_19377070dup	GRCh37
NC_000023.9:g.19286943_19286991dup	NCBI36
NG_016781.1:g.20012_20060dup
NG_021184.1:g.161311_161359dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.921-12_957dup
ENST00000379805.4:c.*592-12_*628dup
ENST00000417819.6:c.984-12_1020dup
ENST00000423505.6:c.1014-12_1050dup
ENST00000481733.2:n.695-12_731dup
ENST00000696704.1:c.*232-12_*268dup
ENST00000696705.1:c.*355-12_*391dup
ENST00000422285.7:c.900-12_936dup
ENST00000379804.1:c.57-12_93dup
ENST00000379806.9:c.1014-12_1050dup
ENST00000422285.6:c.900-12_936dup
ENST00000478795.1:n.339-12_375dup
ENST00000481733.1:n.328-12_364dup
ENST00000540249.5:c.807-12_843dup
ENST00000545074.5:c.921-12_957dup
NM_000284.3:c.900-12_936dup
NM_001173454.1:c.1014-12_1050dup
NM_001173455.1:c.921-12_957dup
NM_001173456.1:c.807-12_843dup
XM_011545531.1:c.1035-12_1071dup
XM_011545532.1:c.942-12_978dup
XM_017029574.2:c.921-12_957dup
NM_000284.4:c.900-12_936dup
NM_001173454.2:c.1014-12_1050dup
NM_001173455.2:c.921-12_957dup
NM_001173456.2:c.807-12_843dup