Canonical Allele Identifier: CA640522516

Gene: PDHA1

Linked Data

• dbSNP Id: rs1458162799
• gnomAD v2: X-19376826-TAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA-T
• gnomAD v3: X-19358708-TAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA-T
• gnomAD v4: X-19358708-TAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA-T
• MyVariant Identifiers: chrX:g.19376827_19376876del (hg19) ; chrX:g.19358709_19358758del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358709_19358758del , CM000685.2:g.19358709_19358758del	GRCh38
NC_000023.10:g.19376827_19376876del , CM000685.1:g.19376827_19376876del	GRCh37
NC_000023.9:g.19286748_19286797del	NCBI36
NG_016781.1:g.19817_19866del
NG_021184.1:g.161504_161553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-207_921-158del	ENSP00000348062.6:n.921-207_921-158del
ENST00000379805.4:c.*592-207_*592-158del	ENSP00000369133.3:n.*592-207_*592-158del
ENST00000417819.6:c.984-207_984-158del	ENSP00000404616.2:n.984-207_984-158del
ENST00000423505.6:c.1014-207_1014-158del	ENSP00000406473.2:n.1014-207_1014-158del
ENST00000481733.2:n.695-207_695-158del
ENST00000696704.1:c.*232-207_*232-158del	ENSP00000512823.1:n.*232-207_*232-158del
ENST00000696705.1:c.*355-207_*355-158del	ENSP00000512824.1:n.*355-207_*355-158del
ENST00000422285.7:c.900-207_900-158del MANE Select	ENSP00000394382.2:n.900-207_900-158del
ENST00000379804.1:c.57-207_57-158del	ENSP00000369132.1:n.57-207_57-158del
ENST00000379806.9:c.1014-207_1014-158del	ENSP00000369134.5:n.1014-207_1014-158del
ENST00000422285.6:c.900-207_900-158del	ENSP00000394382.2:n.900-207_900-158del
ENST00000478795.1:n.339-207_339-158del
ENST00000481733.1:n.328-207_328-158del
ENST00000540249.5:c.807-207_807-158del	ENSP00000440761.1:n.807-207_807-158del
ENST00000545074.5:c.921-207_921-158del	ENSP00000438550.1:n.921-207_921-158del
NM_000284.3:c.900-207_900-158del	NP_000275.1:n.900-207_900-158del
NM_001173454.1:c.1014-207_1014-158del	NP_001166925.1:n.1014-207_1014-158del
NM_001173455.1:c.921-207_921-158del	NP_001166926.1:n.921-207_921-158del
NM_001173456.1:c.807-207_807-158del	NP_001166927.1:n.807-207_807-158del
XM_011545531.1:c.1035-207_1035-158del	XP_011543833.1:n.1035-207_1035-158del
XM_011545532.1:c.942-207_942-158del	XP_011543834.1:n.942-207_942-158del
XM_017029574.2:c.921-207_921-158del	XP_016885063.1:n.921-207_921-158del
NM_000284.4:c.900-207_900-158del MANE Select	NP_000275.1:n.900-207_900-158del
NM_001173454.2:c.1014-207_1014-158del	NP_001166925.1:n.1014-207_1014-158del
NM_001173455.2:c.921-207_921-158del	NP_001166926.1:n.921-207_921-158del
NM_001173456.2:c.807-207_807-158del	NP_001166927.1:n.807-207_807-158del