Canonical Allele Identifier: CA2418225188

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358881_19358892delinsCTTACTGATCGA , CM000685.2:g.19358881_19358892delinsCTTACTGATCGA	GRCh38
NC_000023.10:g.19376999_19377010delinsCTTACTGATCGA , CM000685.1:g.19376999_19377010delinsCTTACTGATCGA	GRCh37
NC_000023.9:g.19286920_19286931delinsCTTACTGATCGA	NCBI36
NG_016781.1:g.19989_20000delinsCTTACTGATCGA
NG_021184.1:g.161370_161381delinsTCGATCAGTAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.921-35_921-24delinsCTTACTGATCGA	ENSP00000348062.6:n.921-35_921-24delinsCT...
ENST00000379805.4:c.*592-35_*592-24delinsCTTACTGATCGA	ENSP00000369133.3:n.*592-35_*592-24delins...
ENST00000417819.6:c.984-35_984-24delinsCTTACTGATCGA	ENSP00000404616.2:n.984-35_984-24delinsCT...
ENST00000423505.6:c.1014-35_1014-24delinsCTTACTGATCGA	ENSP00000406473.2:n.1014-35_1014-24delins...
ENST00000481733.2:n.695-35_695-24delinsCTTACTGATCGA
ENST00000696704.1:c.*232-35_*232-24delinsCTTACTGATCGA	ENSP00000512823.1:n.*232-35_*232-24delins...
ENST00000696705.1:c.*355-35_*355-24delinsCTTACTGATCGA	ENSP00000512824.1:n.*355-35_*355-24delins...
ENST00000422285.7:c.900-35_900-24delinsCTTACTGATCGA MANE Select	ENSP00000394382.2:n.900-35_900-24delinsCT...
ENST00000379804.1:c.57-35_57-24delinsCTTACTGATCGA	ENSP00000369132.1:n.57-35_57-24delinsCTTA...
ENST00000379806.9:c.1014-35_1014-24delinsCTTACTGATCGA	ENSP00000369134.5:n.1014-35_1014-24delins...
ENST00000422285.6:c.900-35_900-24delinsCTTACTGATCGA	ENSP00000394382.2:n.900-35_900-24delinsCT...
ENST00000478795.1:n.339-35_339-24delinsCTTACTGATCGA
ENST00000481733.1:n.328-35_328-24delinsCTTACTGATCGA
ENST00000540249.5:c.807-35_807-24delinsCTTACTGATCGA	ENSP00000440761.1:n.807-35_807-24delinsCT...
ENST00000545074.5:c.921-35_921-24delinsCTTACTGATCGA	ENSP00000438550.1:n.921-35_921-24delinsCT...
NM_000284.3:c.900-35_900-24delinsCTTACTGATCGA	NP_000275.1:n.900-35_900-24delinsCTTACTGA...
NM_001173454.1:c.1014-35_1014-24delinsCTTACTGATCGA	NP_001166925.1:n.1014-35_1014-24delinsCTT...
NM_001173455.1:c.921-35_921-24delinsCTTACTGATCGA	NP_001166926.1:n.921-35_921-24delinsCTTAC...
NM_001173456.1:c.807-35_807-24delinsCTTACTGATCGA	NP_001166927.1:n.807-35_807-24delinsCTTAC...
XM_011545531.1:c.1035-35_1035-24delinsCTTACTGATCGA	XP_011543833.1:n.1035-35_1035-24delinsCTT...
XM_011545532.1:c.942-35_942-24delinsCTTACTGATCGA	XP_011543834.1:n.942-35_942-24delinsCTTAC...
XM_017029574.2:c.921-35_921-24delinsCTTACTGATCGA	XP_016885063.1:n.921-35_921-24delinsCTTAC...
NM_000284.4:c.900-35_900-24delinsCTTACTGATCGA MANE Select	NP_000275.1:n.900-35_900-24delinsCTTACTGA...
NM_001173454.2:c.1014-35_1014-24delinsCTTACTGATCGA	NP_001166925.1:n.1014-35_1014-24delinsCTT...
NM_001173455.2:c.921-35_921-24delinsCTTACTGATCGA	NP_001166926.1:n.921-35_921-24delinsCTTAC...
NM_001173456.2:c.807-35_807-24delinsCTTACTGATCGA	NP_001166927.1:n.807-35_807-24delinsCTTAC...