Canonical Allele Identifier: CA873741496

Gene: PDHA1

Linked Data

• dbSNP Id: rs1354147293
• MyVariant Identifiers: chrX:g.19376694_19376711del (hg19) ; chrX:g.19358576_19358593del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358577_19358594del , CM000685.2:g.19358577_19358594del	GRCh38
NC_000023.10:g.19376695_19376712del , CM000685.1:g.19376695_19376712del	GRCh37
NC_000023.9:g.19286616_19286633del	NCBI36
NG_016781.1:g.19685_19702del
NG_021184.1:g.161669_161686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-339_921-322del	ENSP00000348062.6:n.921-339_921-322del
ENST00000379805.4:c.*592-339_*592-322del	ENSP00000369133.3:n.*592-339_*592-322del
ENST00000417819.6:c.984-339_984-322del	ENSP00000404616.2:n.984-339_984-322del
ENST00000423505.6:c.1014-339_1014-322del	ENSP00000406473.2:n.1014-339_1014-322del
ENST00000481733.2:n.695-339_695-322del
ENST00000696704.1:c.*232-339_*232-322del	ENSP00000512823.1:n.*232-339_*232-322del
ENST00000696705.1:c.*355-339_*355-322del	ENSP00000512824.1:n.*355-339_*355-322del
ENST00000422285.7:c.900-339_900-322del MANE Select	ENSP00000394382.2:n.900-339_900-322del
ENST00000379804.1:c.57-339_57-322del	ENSP00000369132.1:n.57-339_57-322del
ENST00000379806.9:c.1014-339_1014-322del	ENSP00000369134.5:n.1014-339_1014-322del
ENST00000422285.6:c.900-339_900-322del	ENSP00000394382.2:n.900-339_900-322del
ENST00000478795.1:n.339-339_339-322del
ENST00000481733.1:n.328-339_328-322del
ENST00000540249.5:c.807-339_807-322del	ENSP00000440761.1:n.807-339_807-322del
ENST00000545074.5:c.921-339_921-322del	ENSP00000438550.1:n.921-339_921-322del
NM_000284.3:c.900-339_900-322del	NP_000275.1:n.900-339_900-322del
NM_001173454.1:c.1014-339_1014-322del	NP_001166925.1:n.1014-339_1014-322del
NM_001173455.1:c.921-339_921-322del	NP_001166926.1:n.921-339_921-322del
NM_001173456.1:c.807-339_807-322del	NP_001166927.1:n.807-339_807-322del
XM_011545531.1:c.1035-339_1035-322del	XP_011543833.1:n.1035-339_1035-322del
XM_011545532.1:c.942-339_942-322del	XP_011543834.1:n.942-339_942-322del
XM_017029574.2:c.921-339_921-322del	XP_016885063.1:n.921-339_921-322del
NM_000284.4:c.900-339_900-322del MANE Select	NP_000275.1:n.900-339_900-322del
NM_001173454.2:c.1014-339_1014-322del	NP_001166925.1:n.1014-339_1014-322del
NM_001173455.2:c.921-339_921-322del	NP_001166926.1:n.921-339_921-322del
NM_001173456.2:c.807-339_807-322del	NP_001166927.1:n.807-339_807-322del