Canonical Allele Identifier: CA873740386

Gene: PDHA1

Linked Data

• dbSNP Id: rs1389944287
• gnomAD v3: X-19357513-AAATTCGTGACAACTCAG-A
• gnomAD v4: X-19357513-AAATTCGTGACAACTCAG-A
• MyVariant Identifiers: chrX:g.19375632_19375648del (hg19) ; chrX:g.19357514_19357530del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357516_19357532del , CM000685.2:g.19357516_19357532del	GRCh38
NC_000023.10:g.19375634_19375650del , CM000685.1:g.19375634_19375650del	GRCh37
NC_000023.9:g.19285555_19285571del	NCBI36
NG_016781.1:g.18624_18640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-136_853-120del	ENSP00000348062.6:n.853-136_853-120del
ENST00000379805.4:c.*524-136_*524-120del	ENSP00000369133.3:n.*524-136_*524-120del
ENST00000417819.6:c.916-136_916-120del	ENSP00000404616.2:n.916-136_916-120del
ENST00000423505.6:c.946-136_946-120del	ENSP00000406473.2:n.946-136_946-120del
ENST00000481733.2:n.627-136_627-120del
ENST00000696704.1:c.*164-136_*164-120del	ENSP00000512823.1:n.*164-136_*164-120del
ENST00000696705.1:c.*287-136_*287-120del	ENSP00000512824.1:n.*287-136_*287-120del
ENST00000422285.7:c.832-136_832-120del MANE Select	ENSP00000394382.2:n.832-136_832-120del
ENST00000379804.1:c.-12-136_-12-120del	ENSP00000369132.1:n.-12-136_-12-120del
ENST00000379806.9:c.946-136_946-120del	ENSP00000369134.5:n.946-136_946-120del
ENST00000422285.6:c.832-136_832-120del	ENSP00000394382.2:n.832-136_832-120del
ENST00000478795.1:n.135_151del
ENST00000481733.1:n.260-136_260-120del
ENST00000540249.5:c.739-136_739-120del	ENSP00000440761.1:n.739-136_739-120del
ENST00000545074.5:c.853-136_853-120del	ENSP00000438550.1:n.853-136_853-120del
NM_000284.3:c.832-136_832-120del	NP_000275.1:n.832-136_832-120del
NM_001173454.1:c.946-136_946-120del	NP_001166925.1:n.946-136_946-120del
NM_001173455.1:c.853-136_853-120del	NP_001166926.1:n.853-136_853-120del
NM_001173456.1:c.739-136_739-120del	NP_001166927.1:n.739-136_739-120del
XM_011545531.1:c.967-136_967-120del	XP_011543833.1:n.967-136_967-120del
XM_011545532.1:c.874-136_874-120del	XP_011543834.1:n.874-136_874-120del
XM_017029574.2:c.853-136_853-120del	XP_016885063.1:n.853-136_853-120del
NM_000284.4:c.832-136_832-120del MANE Select	NP_000275.1:n.832-136_832-120del
NM_001173454.2:c.946-136_946-120del	NP_001166925.1:n.946-136_946-120del
NM_001173455.2:c.853-136_853-120del	NP_001166926.1:n.853-136_853-120del
NM_001173456.2:c.739-136_739-120del	NP_001166927.1:n.739-136_739-120del