Canonical Allele Identifier: CA2693250848

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357501-T-TCAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357505_19357508dup , CM000685.2:g.19357505_19357508dup	GRCh38
NC_000023.10:g.19375623_19375626dup , CM000685.1:g.19375623_19375626dup	GRCh37
NC_000023.9:g.19285544_19285547dup	NCBI36
NG_016781.1:g.18613_18616dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-147_853-144dup	ENSP00000348062.6:n.853-147_853-144dup
ENST00000379805.4:c.*524-147_*524-144dup	ENSP00000369133.3:n.*524-147_*524-144dup
ENST00000417819.6:c.916-147_916-144dup	ENSP00000404616.2:n.916-147_916-144dup
ENST00000423505.6:c.946-147_946-144dup	ENSP00000406473.2:n.946-147_946-144dup
ENST00000481733.2:n.627-147_627-144dup
ENST00000696704.1:c.*164-147_*164-144dup	ENSP00000512823.1:n.*164-147_*164-144dup
ENST00000696705.1:c.*287-147_*287-144dup	ENSP00000512824.1:n.*287-147_*287-144dup
ENST00000422285.7:c.832-147_832-144dup MANE Select	ENSP00000394382.2:n.832-147_832-144dup
ENST00000379804.1:c.-12-147_-12-144dup	ENSP00000369132.1:n.-12-147_-12-144dup
ENST00000379806.9:c.946-147_946-144dup	ENSP00000369134.5:n.946-147_946-144dup
ENST00000422285.6:c.832-147_832-144dup	ENSP00000394382.2:n.832-147_832-144dup
ENST00000478795.1:n.124_127dup
ENST00000481733.1:n.260-147_260-144dup
ENST00000540249.5:c.739-147_739-144dup	ENSP00000440761.1:n.739-147_739-144dup
ENST00000545074.5:c.853-147_853-144dup	ENSP00000438550.1:n.853-147_853-144dup
NM_000284.3:c.832-147_832-144dup	NP_000275.1:n.832-147_832-144dup
NM_001173454.1:c.946-147_946-144dup	NP_001166925.1:n.946-147_946-144dup
NM_001173455.1:c.853-147_853-144dup	NP_001166926.1:n.853-147_853-144dup
NM_001173456.1:c.739-147_739-144dup	NP_001166927.1:n.739-147_739-144dup
XM_011545531.1:c.967-147_967-144dup	XP_011543833.1:n.967-147_967-144dup
XM_011545532.1:c.874-147_874-144dup	XP_011543834.1:n.874-147_874-144dup
XM_017029574.2:c.853-147_853-144dup	XP_016885063.1:n.853-147_853-144dup
NM_000284.4:c.832-147_832-144dup MANE Select	NP_000275.1:n.832-147_832-144dup
NM_001173454.2:c.946-147_946-144dup	NP_001166925.1:n.946-147_946-144dup
NM_001173455.2:c.853-147_853-144dup	NP_001166926.1:n.853-147_853-144dup
NM_001173456.2:c.739-147_739-144dup	NP_001166927.1:n.739-147_739-144dup