Canonical Allele Identifier: CA2693251342

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359638-T-TAAGTCAGTCAGTTAAGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359640_19359658dup , CM000685.2:g.19359640_19359658dup	GRCh38
NC_000023.10:g.19377758_19377776dup , CM000685.1:g.19377758_19377776dup	GRCh37
NC_000023.9:g.19287679_19287697dup	NCBI36
NG_016781.1:g.20748_20766dup
NG_021184.1:g.160605_160623dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1181_*5dup	ENSP00000348062.6:n.1181_*5dup
ENST00000379805.4:c.*852_*870dup	ENSP00000369133.3:n.*852_*870dup
ENST00000417819.6:c.1244_*5dup	ENSP00000404616.2:n.1244_*5dup
ENST00000423505.6:c.1274_*5dup	ENSP00000406473.2:n.1274_*5dup
ENST00000481733.2:n.955_973dup
ENST00000696704.1:c.*492_*510dup	ENSP00000512823.1:n.*492_*510dup
ENST00000696705.1:c.*615_*633dup	ENSP00000512824.1:n.*615_*633dup
ENST00000422285.7:c.1160_*5dup MANE Select	ENSP00000394382.2:n.1160_*5dup
ENST00000379804.1:c.317_*5dup	ENSP00000369132.1:n.317_*5dup
ENST00000379806.9:c.1274_*5dup	ENSP00000369134.5:n.1274_*5dup
ENST00000422285.6:c.1160_*5dup	ENSP00000394382.2:n.1160_*5dup
ENST00000478795.1:n.599_617dup
ENST00000540249.5:c.1067_*5dup	ENSP00000440761.1:n.1067_*5dup
ENST00000545074.5:c.1181_*5dup	ENSP00000438550.1:n.1181_*5dup
NM_000284.3:c.1160_*5dup	NP_000275.1:n.1160_*5dup
NM_001173454.1:c.1274_*5dup	NP_001166925.1:n.1274_*5dup
NM_001173455.1:c.1181_*5dup	NP_001166926.1:n.1181_*5dup
NM_001173456.1:c.1067_*5dup	NP_001166927.1:n.1067_*5dup
XM_011545531.1:c.1295_*5dup	XP_011543833.1:n.1295_*5dup
XM_011545532.1:c.1202_*5dup	XP_011543834.1:n.1202_*5dup
XM_017029574.2:c.1181_*5dup	XP_016885063.1:n.1181_*5dup
NM_000284.4:c.1160_*5dup MANE Select	NP_000275.1:n.1160_*5dup
NM_001173454.2:c.1274_*5dup	NP_001166925.1:n.1274_*5dup
NM_001173455.2:c.1181_*5dup	NP_001166926.1:n.1181_*5dup
NM_001173456.2:c.1067_*5dup	NP_001166927.1:n.1067_*5dup