Canonical Allele Identifier: CA2418224501

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357449_19357453delinsTGAGA , CM000685.2:g.19357449_19357453delinsTGAGA	GRCh38
NC_000023.10:g.19375567_19375571delinsTGAGA , CM000685.1:g.19375567_19375571delinsTGAGA	GRCh37
NC_000023.9:g.19285488_19285492delinsTGAGA	NCBI36
NG_016781.1:g.18557_18561delinsTGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-203_853-199delinsTGAGA	ENSP00000348062.6:n.853-203_853-199delinsTGAGA
ENST00000379805.4:c.*524-203_*524-199delinsTGAGA	ENSP00000369133.3:n.*524-203_*524-199delinsTGAGA
ENST00000417819.6:c.916-203_916-199delinsTGAGA	ENSP00000404616.2:n.916-203_916-199delinsTGAGA
ENST00000423505.6:c.946-203_946-199delinsTGAGA	ENSP00000406473.2:n.946-203_946-199delinsTGAGA
ENST00000481733.2:n.627-203_627-199delinsTGAGA
ENST00000696704.1:c.*164-203_*164-199delinsTGAGA	ENSP00000512823.1:n.*164-203_*164-199delinsTGAGA
ENST00000696705.1:c.*287-203_*287-199delinsTGAGA	ENSP00000512824.1:n.*287-203_*287-199delinsTGAGA
ENST00000422285.7:c.832-203_832-199delinsTGAGA MANE Select	ENSP00000394382.2:n.832-203_832-199delinsTGAGA
ENST00000379804.1:c.-12-203_-12-199delinsTGAGA	ENSP00000369132.1:n.-12-203_-12-199delinsTGAGA
ENST00000379806.9:c.946-203_946-199delinsTGAGA	ENSP00000369134.5:n.946-203_946-199delinsTGAGA
ENST00000422285.6:c.832-203_832-199delinsTGAGA	ENSP00000394382.2:n.832-203_832-199delinsTGAGA
ENST00000478795.1:n.68_72delinsTGAGA
ENST00000481733.1:n.260-203_260-199delinsTGAGA
ENST00000540249.5:c.739-203_739-199delinsTGAGA	ENSP00000440761.1:n.739-203_739-199delinsTGAGA
ENST00000545074.5:c.853-203_853-199delinsTGAGA	ENSP00000438550.1:n.853-203_853-199delinsTGAGA
NM_000284.3:c.832-203_832-199delinsTGAGA	NP_000275.1:n.832-203_832-199delinsTGAGA
NM_001173454.1:c.946-203_946-199delinsTGAGA	NP_001166925.1:n.946-203_946-199delinsTGAGA
NM_001173455.1:c.853-203_853-199delinsTGAGA	NP_001166926.1:n.853-203_853-199delinsTGAGA
NM_001173456.1:c.739-203_739-199delinsTGAGA	NP_001166927.1:n.739-203_739-199delinsTGAGA
XM_011545531.1:c.967-203_967-199delinsTGAGA	XP_011543833.1:n.967-203_967-199delinsTGAGA
XM_011545532.1:c.874-203_874-199delinsTGAGA	XP_011543834.1:n.874-203_874-199delinsTGAGA
XM_017029574.2:c.853-203_853-199delinsTGAGA	XP_016885063.1:n.853-203_853-199delinsTGAGA
NM_000284.4:c.832-203_832-199delinsTGAGA MANE Select	NP_000275.1:n.832-203_832-199delinsTGAGA
NM_001173454.2:c.946-203_946-199delinsTGAGA	NP_001166925.1:n.946-203_946-199delinsTGAGA
NM_001173455.2:c.853-203_853-199delinsTGAGA	NP_001166926.1:n.853-203_853-199delinsTGAGA
NM_001173456.2:c.739-203_739-199delinsTGAGA	NP_001166927.1:n.739-203_739-199delinsTGAGA