Canonical Allele Identifier: CA2693251377

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359693-A-AGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359694_19359696dup , CM000685.2:g.19359694_19359696dup	GRCh38
NC_000023.10:g.19377812_19377814dup , CM000685.1:g.19377812_19377814dup	GRCh37
NC_000023.9:g.19287733_19287735dup	NCBI36
NG_016781.1:g.20802_20804dup
NG_021184.1:g.160566_160568dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*41_*43dup	ENSP00000348062.6:n.*41_*43dup
ENST00000379805.4:c.*906_*908dup	ENSP00000369133.3:n.*906_*908dup
ENST00000417819.6:c.*41_*43dup	ENSP00000404616.2:n.*41_*43dup
ENST00000423505.6:c.*41_*43dup	ENSP00000406473.2:n.*41_*43dup
ENST00000481733.2:n.1009_1011dup
ENST00000696704.1:c.*546_*548dup	ENSP00000512823.1:n.*546_*548dup
ENST00000696705.1:c.*669_*671dup	ENSP00000512824.1:n.*669_*671dup
ENST00000422285.7:c.*41_*43dup MANE Select	ENSP00000394382.2:n.*41_*43dup
ENST00000379804.1:c.*41_*43dup	ENSP00000369132.1:n.*41_*43dup
ENST00000379806.9:c.*41_*43dup	ENSP00000369134.5:n.*41_*43dup
ENST00000422285.6:c.*41_*43dup	ENSP00000394382.2:n.*41_*43dup
ENST00000478795.1:n.653_655dup
ENST00000540249.5:c.*41_*43dup	ENSP00000440761.1:n.*41_*43dup
ENST00000545074.5:c.*41_*43dup	ENSP00000438550.1:n.*41_*43dup
NM_000284.3:c.*41_*43dup	NP_000275.1:n.*41_*43dup
NM_001173454.1:c.*41_*43dup	NP_001166925.1:n.*41_*43dup
NM_001173455.1:c.*41_*43dup	NP_001166926.1:n.*41_*43dup
NM_001173456.1:c.*41_*43dup	NP_001166927.1:n.*41_*43dup
XM_011545531.1:c.*41_*43dup	XP_011543833.1:n.*41_*43dup
XM_011545532.1:c.*41_*43dup	XP_011543834.1:n.*41_*43dup
XM_017029574.2:c.*41_*43dup	XP_016885063.1:n.*41_*43dup
NM_000284.4:c.*41_*43dup MANE Select	NP_000275.1:n.*41_*43dup
NM_001173454.2:c.*41_*43dup	NP_001166925.1:n.*41_*43dup
NM_001173455.2:c.*41_*43dup	NP_001166926.1:n.*41_*43dup
NM_001173456.2:c.*41_*43dup	NP_001166927.1:n.*41_*43dup