Canonical Allele Identifier: CA2693250928

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2988326
• ClinVar RCV Id: RCV003844509
• gnomAD v4: X-19357641-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357643_19357644del , CM000685.2:g.19357643_19357644del	GRCh38
NC_000023.10:g.19375761_19375762del , CM000685.1:g.19375761_19375762del	GRCh37
NC_000023.9:g.19285682_19285683del	NCBI36
NG_016781.1:g.18751_18752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-9_853-8del	ENSP00000348062.6:n.853-9_853-8del
ENST00000379805.4:c.*524-9_*524-8del	ENSP00000369133.3:n.*524-9_*524-8del
ENST00000417819.6:c.916-9_916-8del	ENSP00000404616.2:n.916-9_916-8del
ENST00000423505.6:c.946-9_946-8del	ENSP00000406473.2:n.946-9_946-8del
ENST00000481733.2:n.627-9_627-8del
ENST00000696704.1:c.*164-9_*164-8del	ENSP00000512823.1:n.*164-9_*164-8del
ENST00000696705.1:c.*287-9_*287-8del	ENSP00000512824.1:n.*287-9_*287-8del
ENST00000422285.7:c.832-9_832-8del MANE Select	ENSP00000394382.2:n.832-9_832-8del
ENST00000379804.1:c.-12-9_-12-8del	ENSP00000369132.1:n.-12-9_-12-8del
ENST00000379806.9:c.946-9_946-8del	ENSP00000369134.5:n.946-9_946-8del
ENST00000422285.6:c.832-9_832-8del	ENSP00000394382.2:n.832-9_832-8del
ENST00000478795.1:n.262_263del
ENST00000481733.1:n.260-9_260-8del
ENST00000540249.5:c.739-9_739-8del	ENSP00000440761.1:n.739-9_739-8del
ENST00000545074.5:c.853-9_853-8del	ENSP00000438550.1:n.853-9_853-8del
NM_000284.3:c.832-9_832-8del	NP_000275.1:n.832-9_832-8del
NM_001173454.1:c.946-9_946-8del	NP_001166925.1:n.946-9_946-8del
NM_001173455.1:c.853-9_853-8del	NP_001166926.1:n.853-9_853-8del
NM_001173456.1:c.739-9_739-8del	NP_001166927.1:n.739-9_739-8del
XM_011545531.1:c.967-9_967-8del	XP_011543833.1:n.967-9_967-8del
XM_011545532.1:c.874-9_874-8del	XP_011543834.1:n.874-9_874-8del
XM_017029574.2:c.853-9_853-8del	XP_016885063.1:n.853-9_853-8del
NM_000284.4:c.832-9_832-8del MANE Select	NP_000275.1:n.832-9_832-8del
NM_001173454.2:c.946-9_946-8del	NP_001166925.1:n.946-9_946-8del
NM_001173455.2:c.853-9_853-8del	NP_001166926.1:n.853-9_853-8del
NM_001173456.2:c.739-9_739-8del	NP_001166927.1:n.739-9_739-8del