Canonical Allele Identifier: CA1131433477

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063210588
• gnomAD v3: X-19357442-TTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC-T
• gnomAD v4: X-19357442-TTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357445_19357482del , CM000685.2:g.19357445_19357482del	GRCh38
NC_000023.10:g.19375563_19375600del , CM000685.1:g.19375563_19375600del	GRCh37
NC_000023.9:g.19285484_19285521del	NCBI36
NG_016781.1:g.18553_18590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-207_853-170del	ENSP00000348062.6:n.853-207_853-170del
ENST00000379805.4:c.*524-207_*524-170del	ENSP00000369133.3:n.*524-207_*524-170del
ENST00000417819.6:c.916-207_916-170del	ENSP00000404616.2:n.916-207_916-170del
ENST00000423505.6:c.946-207_946-170del	ENSP00000406473.2:n.946-207_946-170del
ENST00000481733.2:n.627-207_627-170del
ENST00000696704.1:c.*164-207_*164-170del	ENSP00000512823.1:n.*164-207_*164-170del
ENST00000696705.1:c.*287-207_*287-170del	ENSP00000512824.1:n.*287-207_*287-170del
ENST00000422285.7:c.832-207_832-170del MANE Select	ENSP00000394382.2:n.832-207_832-170del
ENST00000379804.1:c.-12-207_-12-170del	ENSP00000369132.1:n.-12-207_-12-170del
ENST00000379806.9:c.946-207_946-170del	ENSP00000369134.5:n.946-207_946-170del
ENST00000422285.6:c.832-207_832-170del	ENSP00000394382.2:n.832-207_832-170del
ENST00000478795.1:n.64_101del
ENST00000481733.1:n.260-207_260-170del
ENST00000540249.5:c.739-207_739-170del	ENSP00000440761.1:n.739-207_739-170del
ENST00000545074.5:c.853-207_853-170del	ENSP00000438550.1:n.853-207_853-170del
NM_000284.3:c.832-207_832-170del	NP_000275.1:n.832-207_832-170del
NM_001173454.1:c.946-207_946-170del	NP_001166925.1:n.946-207_946-170del
NM_001173455.1:c.853-207_853-170del	NP_001166926.1:n.853-207_853-170del
NM_001173456.1:c.739-207_739-170del	NP_001166927.1:n.739-207_739-170del
XM_011545531.1:c.967-207_967-170del	XP_011543833.1:n.967-207_967-170del
XM_011545532.1:c.874-207_874-170del	XP_011543834.1:n.874-207_874-170del
XM_017029574.2:c.853-207_853-170del	XP_016885063.1:n.853-207_853-170del
NM_000284.4:c.832-207_832-170del MANE Select	NP_000275.1:n.832-207_832-170del
NM_001173454.2:c.946-207_946-170del	NP_001166925.1:n.946-207_946-170del
NM_001173455.2:c.853-207_853-170del	NP_001166926.1:n.853-207_853-170del
NM_001173456.2:c.739-207_739-170del	NP_001166927.1:n.739-207_739-170del