Canonical Allele Identifier: CA913191131

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 599237
• ClinVar RCV Id: RCV000735827

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19350111_19351408dup , CM000685.2:g.19350111_19351408dup	GRCh38
NC_000023.10:g.19368229_19369526dup , CM000685.1:g.19368229_19369526dup	GRCh37
NC_000023.9:g.19278150_19279447dup	NCBI36
NG_016781.1:g.11219_12516dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.291+1_439+1dup
ENST00000379805.4:c.291+1_418+1dup
ENST00000417819.6:c.375+1_502+1dup
ENST00000423505.6:c.405+1_532+1dup
ENST00000696704.1:c.291+1_418+1dup
ENST00000696705.1:c.291+1_418+1dup
ENST00000422285.7:c.291+1_418+1dup
ENST00000355808.9:c.291+1_439+1dup
ENST00000379805.3:c.291+1_418+1dup
ENST00000379806.9:c.405+1_532+1dup
ENST00000422285.6:c.291+1_418+1dup
ENST00000423505.5:c.405+1_532+1dup
ENST00000492364.1:n.393+1_521dup
ENST00000540249.5:c.291+1_418+1dup
ENST00000545074.5:c.291+1_439+1dup
NM_000284.3:c.291+1_418+1dup
NM_001173454.1:c.405+1_532+1dup
NM_001173455.1:c.291+1_439+1dup
NM_001173456.1:c.291+1_418+1dup
XM_011545531.1:c.405+1_553+1dup
XM_011545532.1:c.405+1_553+1dup
XM_017029574.2:c.405+1_532+1dup
NM_000284.4:c.291+1_418+1dup
NM_001173454.2:c.405+1_532+1dup
NM_001173455.2:c.291+1_439+1dup
NM_001173456.2:c.291+1_418+1dup