Canonical Allele Identifier: CA1131434741

Gene: PDHA1

Linked Data

• gnomAD v3: X-19359782-T-TCTCGG
• gnomAD v4: X-19359782-T-TCTCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359782_19359783insCTCGG , CM000685.2:g.19359782_19359783insCTCGG	GRCh38
NC_000023.10:g.19377900_19377901insCTCGG , CM000685.1:g.19377900_19377901insCTCGG	GRCh37
NC_000023.9:g.19287821_19287822insCTCGG	NCBI36
NG_016781.1:g.20890_20891insCTCGG
NG_021184.1:g.160479_160480insCCGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*129_*130insCTCGG	ENSP00000348062.6:n.*129_*130insCTCGG
ENST00000379805.4:c.*994_*995insCTCGG	ENSP00000369133.3:n.*994_*995insCTCGG
ENST00000417819.6:c.*129_*130insCTCGG	ENSP00000404616.2:n.*129_*130insCTCGG
ENST00000423505.6:c.*129_*130insCTCGG	ENSP00000406473.2:n.*129_*130insCTCGG
ENST00000481733.2:n.1097_1098insCTCGG
ENST00000696704.1:c.*634_*635insCTCGG	ENSP00000512823.1:n.*634_*635insCTCGG
ENST00000696705.1:c.*757_*758insCTCGG	ENSP00000512824.1:n.*757_*758insCTCGG
ENST00000422285.7:c.*129_*130insCTCGG MANE Select	ENSP00000394382.2:n.*129_*130insCTCGG
ENST00000379804.1:c.*129_*130insCTCGG	ENSP00000369132.1:n.*129_*130insCTCGG
ENST00000379806.9:c.*129_*130insCTCGG	ENSP00000369134.5:n.*129_*130insCTCGG
ENST00000422285.6:c.*129_*130insCTCGG	ENSP00000394382.2:n.*129_*130insCTCGG
ENST00000478795.1:n.741_742insCTCGG
ENST00000540249.5:c.*129_*130insCTCGG	ENSP00000440761.1:n.*129_*130insCTCGG
ENST00000545074.5:c.*129_*130insCTCGG	ENSP00000438550.1:n.*129_*130insCTCGG
NM_000284.3:c.*129_*130insCTCGG	NP_000275.1:n.*129_*130insCTCGG
NM_001173454.1:c.*129_*130insCTCGG	NP_001166925.1:n.*129_*130insCTCGG
NM_001173455.1:c.*129_*130insCTCGG	NP_001166926.1:n.*129_*130insCTCGG
NM_001173456.1:c.*129_*130insCTCGG	NP_001166927.1:n.*129_*130insCTCGG
XM_011545531.1:c.*129_*130insCTCGG	XP_011543833.1:n.*129_*130insCTCGG
XM_011545532.1:c.*129_*130insCTCGG	XP_011543834.1:n.*129_*130insCTCGG
XM_017029574.2:c.*129_*130insCTCGG	XP_016885063.1:n.*129_*130insCTCGG
NM_000284.4:c.*129_*130insCTCGG MANE Select	NP_000275.1:n.*129_*130insCTCGG
NM_001173454.2:c.*129_*130insCTCGG	NP_001166925.1:n.*129_*130insCTCGG
NM_001173455.2:c.*129_*130insCTCGG	NP_001166926.1:n.*129_*130insCTCGG
NM_001173456.2:c.*129_*130insCTCGG	NP_001166927.1:n.*129_*130insCTCGG