Canonical Allele Identifier: CA873741660

Gene: PDHA1

Linked Data

• dbSNP Id: rs1289526627
• MyVariant Identifiers: chrX:g.19376863_19376864del (hg19) ; chrX:g.19358745_19358746del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358747_19358748del , CM000685.2:g.19358747_19358748del	GRCh38
NC_000023.10:g.19376865_19376866del , CM000685.1:g.19376865_19376866del	GRCh37
NC_000023.9:g.19286786_19286787del	NCBI36
NG_016781.1:g.19855_19856del
NG_021184.1:g.161516_161517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-169_921-168del	ENSP00000348062.6:n.921-169_921-168del
ENST00000379805.4:c.*592-169_*592-168del	ENSP00000369133.3:n.*592-169_*592-168del
ENST00000417819.6:c.984-169_984-168del	ENSP00000404616.2:n.984-169_984-168del
ENST00000423505.6:c.1014-169_1014-168del	ENSP00000406473.2:n.1014-169_1014-168del
ENST00000481733.2:n.695-169_695-168del
ENST00000696704.1:c.*232-169_*232-168del	ENSP00000512823.1:n.*232-169_*232-168del
ENST00000696705.1:c.*355-169_*355-168del	ENSP00000512824.1:n.*355-169_*355-168del
ENST00000422285.7:c.900-169_900-168del MANE Select	ENSP00000394382.2:n.900-169_900-168del
ENST00000379804.1:c.57-169_57-168del	ENSP00000369132.1:n.57-169_57-168del
ENST00000379806.9:c.1014-169_1014-168del	ENSP00000369134.5:n.1014-169_1014-168del
ENST00000422285.6:c.900-169_900-168del	ENSP00000394382.2:n.900-169_900-168del
ENST00000478795.1:n.339-169_339-168del
ENST00000481733.1:n.328-169_328-168del
ENST00000540249.5:c.807-169_807-168del	ENSP00000440761.1:n.807-169_807-168del
ENST00000545074.5:c.921-169_921-168del	ENSP00000438550.1:n.921-169_921-168del
NM_000284.3:c.900-169_900-168del	NP_000275.1:n.900-169_900-168del
NM_001173454.1:c.1014-169_1014-168del	NP_001166925.1:n.1014-169_1014-168del
NM_001173455.1:c.921-169_921-168del	NP_001166926.1:n.921-169_921-168del
NM_001173456.1:c.807-169_807-168del	NP_001166927.1:n.807-169_807-168del
XM_011545531.1:c.1035-169_1035-168del	XP_011543833.1:n.1035-169_1035-168del
XM_011545532.1:c.942-169_942-168del	XP_011543834.1:n.942-169_942-168del
XM_017029574.2:c.921-169_921-168del	XP_016885063.1:n.921-169_921-168del
NM_000284.4:c.900-169_900-168del MANE Select	NP_000275.1:n.900-169_900-168del
NM_001173454.2:c.1014-169_1014-168del	NP_001166925.1:n.1014-169_1014-168del
NM_001173455.2:c.921-169_921-168del	NP_001166926.1:n.921-169_921-168del
NM_001173456.2:c.807-169_807-168del	NP_001166927.1:n.807-169_807-168del