Canonical Allele Identifier: CA2693250820

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357445-AAAATGAGAAAGATGAAATATGCAATCAATACTTGCTAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357455_19357492del , CM000685.2:g.19357455_19357492del	GRCh38
NC_000023.10:g.19375573_19375610del , CM000685.1:g.19375573_19375610del	GRCh37
NC_000023.9:g.19285494_19285531del	NCBI36
NG_016781.1:g.18563_18600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-197_853-160del	ENSP00000348062.6:n.853-197_853-160del
ENST00000379805.4:c.*524-197_*524-160del	ENSP00000369133.3:n.*524-197_*524-160del
ENST00000417819.6:c.916-197_916-160del	ENSP00000404616.2:n.916-197_916-160del
ENST00000423505.6:c.946-197_946-160del	ENSP00000406473.2:n.946-197_946-160del
ENST00000481733.2:n.627-197_627-160del
ENST00000696704.1:c.*164-197_*164-160del	ENSP00000512823.1:n.*164-197_*164-160del
ENST00000696705.1:c.*287-197_*287-160del	ENSP00000512824.1:n.*287-197_*287-160del
ENST00000422285.7:c.832-197_832-160del MANE Select	ENSP00000394382.2:n.832-197_832-160del
ENST00000379804.1:c.-12-197_-12-160del	ENSP00000369132.1:n.-12-197_-12-160del
ENST00000379806.9:c.946-197_946-160del	ENSP00000369134.5:n.946-197_946-160del
ENST00000422285.6:c.832-197_832-160del	ENSP00000394382.2:n.832-197_832-160del
ENST00000478795.1:n.74_111del
ENST00000481733.1:n.260-197_260-160del
ENST00000540249.5:c.739-197_739-160del	ENSP00000440761.1:n.739-197_739-160del
ENST00000545074.5:c.853-197_853-160del	ENSP00000438550.1:n.853-197_853-160del
NM_000284.3:c.832-197_832-160del	NP_000275.1:n.832-197_832-160del
NM_001173454.1:c.946-197_946-160del	NP_001166925.1:n.946-197_946-160del
NM_001173455.1:c.853-197_853-160del	NP_001166926.1:n.853-197_853-160del
NM_001173456.1:c.739-197_739-160del	NP_001166927.1:n.739-197_739-160del
XM_011545531.1:c.967-197_967-160del	XP_011543833.1:n.967-197_967-160del
XM_011545532.1:c.874-197_874-160del	XP_011543834.1:n.874-197_874-160del
XM_017029574.2:c.853-197_853-160del	XP_016885063.1:n.853-197_853-160del
NM_000284.4:c.832-197_832-160del MANE Select	NP_000275.1:n.832-197_832-160del
NM_001173454.2:c.946-197_946-160del	NP_001166925.1:n.946-197_946-160del
NM_001173455.2:c.853-197_853-160del	NP_001166926.1:n.853-197_853-160del
NM_001173456.2:c.739-197_739-160del	NP_001166927.1:n.739-197_739-160del