Canonical Allele Identifier: CA915950755

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 751070
• ClinVar RCV Id: RCV001439113
• dbSNP Id: rs1602227706
• gnomAD v4: X-19355512-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355513del , CM000685.2:g.19355513del	GRCh38
NC_000023.10:g.19373631del , CM000685.1:g.19373631del	GRCh37
NC_000023.9:g.19283552del	NCBI36
NG_016781.1:g.16621del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.780+9del	ENSP00000348062.6:n.780+9del
ENST00000379805.4:c.*451+9del	ENSP00000369133.3:n.*451+9del
ENST00000417819.6:c.843+9del	ENSP00000404616.2:n.843+9del
ENST00000423505.6:c.873+9del	ENSP00000406473.2:n.873+9del
ENST00000481733.2:n.554+9del
ENST00000696704.1:c.*91+9del	ENSP00000512823.1:n.*91+9del
ENST00000696705.1:c.*214+9del	ENSP00000512824.1:n.*214+9del
ENST00000422285.7:c.759+9del MANE Select	ENSP00000394382.2:n.759+9del
ENST00000379806.9:c.873+9del	ENSP00000369134.5:n.873+9del
ENST00000422285.6:c.759+9del	ENSP00000394382.2:n.759+9del
ENST00000481733.1:n.187+9del
ENST00000540249.5:c.666+9del	ENSP00000440761.1:n.666+9del
ENST00000545074.5:c.780+9del	ENSP00000438550.1:n.780+9del
NM_000284.3:c.759+9del	NP_000275.1:n.759+9del
NM_001173454.1:c.873+9del	NP_001166925.1:n.873+9del
NM_001173455.1:c.780+9del	NP_001166926.1:n.780+9del
NM_001173456.1:c.666+9del	NP_001166927.1:n.666+9del
XM_011545531.1:c.894+9del	XP_011543833.1:n.894+9del
XM_011545532.1:c.801+9del	XP_011543834.1:n.801+9del
XM_017029574.2:c.780+9del	XP_016885063.1:n.780+9del
NM_000284.4:c.759+9del MANE Select	NP_000275.1:n.759+9del
NM_001173454.2:c.873+9del	NP_001166925.1:n.873+9del
NM_001173455.2:c.780+9del	NP_001166926.1:n.780+9del
NM_001173456.2:c.666+9del	NP_001166927.1:n.666+9del