Canonical Allele Identifier: CA2693250792

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357404-C-CTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357406_19357409dup , CM000685.2:g.19357406_19357409dup	GRCh38
NC_000023.10:g.19375524_19375527dup , CM000685.1:g.19375524_19375527dup	GRCh37
NC_000023.9:g.19285445_19285448dup	NCBI36
NG_016781.1:g.18514_18517dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-246_853-243dup	ENSP00000348062.6:n.853-246_853-243dup
ENST00000379805.4:c.*524-246_*524-243dup	ENSP00000369133.3:n.*524-246_*524-243dup
ENST00000417819.6:c.916-246_916-243dup	ENSP00000404616.2:n.916-246_916-243dup
ENST00000423505.6:c.946-246_946-243dup	ENSP00000406473.2:n.946-246_946-243dup
ENST00000481733.2:n.627-246_627-243dup
ENST00000696704.1:c.*164-246_*164-243dup	ENSP00000512823.1:n.*164-246_*164-243dup
ENST00000696705.1:c.*287-246_*287-243dup	ENSP00000512824.1:n.*287-246_*287-243dup
ENST00000422285.7:c.832-246_832-243dup MANE Select	ENSP00000394382.2:n.832-246_832-243dup
ENST00000379804.1:c.-12-246_-12-243dup	ENSP00000369132.1:n.-12-246_-12-243dup
ENST00000379806.9:c.946-246_946-243dup	ENSP00000369134.5:n.946-246_946-243dup
ENST00000422285.6:c.832-246_832-243dup	ENSP00000394382.2:n.832-246_832-243dup
ENST00000478795.1:n.25_28dup
ENST00000481733.1:n.260-246_260-243dup
ENST00000540249.5:c.739-246_739-243dup	ENSP00000440761.1:n.739-246_739-243dup
ENST00000545074.5:c.853-246_853-243dup	ENSP00000438550.1:n.853-246_853-243dup
NM_000284.3:c.832-246_832-243dup	NP_000275.1:n.832-246_832-243dup
NM_001173454.1:c.946-246_946-243dup	NP_001166925.1:n.946-246_946-243dup
NM_001173455.1:c.853-246_853-243dup	NP_001166926.1:n.853-246_853-243dup
NM_001173456.1:c.739-246_739-243dup	NP_001166927.1:n.739-246_739-243dup
XM_011545531.1:c.967-246_967-243dup	XP_011543833.1:n.967-246_967-243dup
XM_011545532.1:c.874-246_874-243dup	XP_011543834.1:n.874-246_874-243dup
XM_017029574.2:c.853-246_853-243dup	XP_016885063.1:n.853-246_853-243dup
NM_000284.4:c.832-246_832-243dup MANE Select	NP_000275.1:n.832-246_832-243dup
NM_001173454.2:c.946-246_946-243dup	NP_001166925.1:n.946-246_946-243dup
NM_001173455.2:c.853-246_853-243dup	NP_001166926.1:n.853-246_853-243dup
NM_001173456.2:c.739-246_739-243dup	NP_001166927.1:n.739-246_739-243dup