Canonical Allele Identifier: CA2693251457

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359824-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359826_19359828dup , CM000685.2:g.19359826_19359828dup	GRCh38
NC_000023.10:g.19377944_19377946dup , CM000685.1:g.19377944_19377946dup	GRCh37
NC_000023.9:g.19287865_19287867dup	NCBI36
NG_016781.1:g.20934_20936dup
NG_021184.1:g.160435_160437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*173_*175dup	ENSP00000348062.6:n.*173_*175dup
ENST00000417819.6:c.*173_*175dup	ENSP00000404616.2:n.*173_*175dup
ENST00000423505.6:c.*173_*175dup	ENSP00000406473.2:n.*173_*175dup
ENST00000481733.2:n.1141_1143dup
ENST00000696704.1:c.*678_*680dup	ENSP00000512823.1:n.*678_*680dup
ENST00000696705.1:c.*801_*803dup	ENSP00000512824.1:n.*801_*803dup
ENST00000422285.7:c.*173_*175dup MANE Select	ENSP00000394382.2:n.*173_*175dup
ENST00000379804.1:c.*173_*175dup	ENSP00000369132.1:n.*173_*175dup
ENST00000379806.9:c.*173_*175dup	ENSP00000369134.5:n.*173_*175dup
ENST00000422285.6:c.*173_*175dup	ENSP00000394382.2:n.*173_*175dup
ENST00000478795.1:n.785_787dup
ENST00000540249.5:c.*173_*175dup	ENSP00000440761.1:n.*173_*175dup
ENST00000545074.5:c.*173_*175dup	ENSP00000438550.1:n.*173_*175dup
NM_000284.3:c.*173_*175dup	NP_000275.1:n.*173_*175dup
NM_001173454.1:c.*173_*175dup	NP_001166925.1:n.*173_*175dup
NM_001173455.1:c.*173_*175dup	NP_001166926.1:n.*173_*175dup
NM_001173456.1:c.*173_*175dup	NP_001166927.1:n.*173_*175dup
XM_011545531.1:c.*173_*175dup	XP_011543833.1:n.*173_*175dup
XM_011545532.1:c.*173_*175dup	XP_011543834.1:n.*173_*175dup
XM_017029574.2:c.*173_*175dup	XP_016885063.1:n.*173_*175dup
NM_000284.4:c.*173_*175dup MANE Select	NP_000275.1:n.*173_*175dup
NM_001173454.2:c.*173_*175dup	NP_001166925.1:n.*173_*175dup
NM_001173455.2:c.*173_*175dup	NP_001166926.1:n.*173_*175dup
NM_001173456.2:c.*173_*175dup	NP_001166927.1:n.*173_*175dup