Canonical Allele Identifier: CA2693251496

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359892-C-CTAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359895_19359898dup , CM000685.2:g.19359895_19359898dup	GRCh38
NC_000023.10:g.19378013_19378016dup , CM000685.1:g.19378013_19378016dup	GRCh37
NC_000023.9:g.19287934_19287937dup	NCBI36
NG_016781.1:g.21003_21006dup
NG_021184.1:g.160366_160369dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*242_*245dup	ENSP00000348062.6:n.*242_*245dup
ENST00000423505.6:c.*242_*245dup	ENSP00000406473.2:n.*242_*245dup
ENST00000696704.1:c.*747_*750dup	ENSP00000512823.1:n.*747_*750dup
ENST00000696705.1:c.*870_*873dup	ENSP00000512824.1:n.*870_*873dup
ENST00000422285.7:c.*242_*245dup MANE Select	ENSP00000394382.2:n.*242_*245dup
ENST00000379806.9:c.*242_*245dup	ENSP00000369134.5:n.*242_*245dup
ENST00000422285.6:c.*242_*245dup	ENSP00000394382.2:n.*242_*245dup
ENST00000540249.5:c.*242_*245dup	ENSP00000440761.1:n.*242_*245dup
ENST00000545074.5:c.*242_*245dup	ENSP00000438550.1:n.*242_*245dup
NM_000284.3:c.*242_*245dup	NP_000275.1:n.*242_*245dup
NM_001173454.1:c.*242_*245dup	NP_001166925.1:n.*242_*245dup
NM_001173455.1:c.*242_*245dup	NP_001166926.1:n.*242_*245dup
NM_001173456.1:c.*242_*245dup	NP_001166927.1:n.*242_*245dup
XM_011545531.1:c.*242_*245dup	XP_011543833.1:n.*242_*245dup
XM_011545532.1:c.*242_*245dup	XP_011543834.1:n.*242_*245dup
NM_000284.4:c.*242_*245dup MANE Select	NP_000275.1:n.*242_*245dup
NM_001173454.2:c.*242_*245dup	NP_001166925.1:n.*242_*245dup
NM_001173455.2:c.*242_*245dup	NP_001166926.1:n.*242_*245dup
NM_001173456.2:c.*242_*245dup	NP_001166927.1:n.*242_*245dup