Canonical Allele Identifier: CA2568006414

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358967del , CM000685.2:g.19358967del	GRCh38
NC_000023.10:g.19377085del , CM000685.1:g.19377085del	GRCh37
NC_000023.9:g.19287006del	NCBI36
NG_016781.1:g.20075del
NG_021184.1:g.161296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.972del	ENSP00000348062.6:p.Met325CysfsTer8
ENST00000379805.4:c.*643del	ENSP00000369133.3:n.*643del
ENST00000417819.6:c.1035del	ENSP00000404616.2:p.Met346CysfsTer8
ENST00000423505.6:c.1065del	ENSP00000406473.2:p.Met356CysfsTer8
ENST00000481733.2:n.746del
ENST00000696704.1:c.*283del	ENSP00000512823.1:n.*283del
ENST00000696705.1:c.*406del	ENSP00000512824.1:n.*406del
ENST00000422285.7:c.951del MANE Select	ENSP00000394382.2:p.Met318CysfsTer8
ENST00000379804.1:c.108del	ENSP00000369132.1:p.Met37CysfsTer8
ENST00000379806.9:c.1065del	ENSP00000369134.5:p.Met356CysfsTer8
ENST00000422285.6:c.951del	ENSP00000394382.2:p.Met318CysfsTer8
ENST00000478795.1:n.390del
ENST00000481733.1:n.379del
ENST00000540249.5:c.858del	ENSP00000440761.1:p.Met287CysfsTer8
ENST00000545074.5:c.972del	ENSP00000438550.1:p.Met325CysfsTer8
NM_000284.3:c.951del	NP_000275.1:p.Met318CysfsTer8
NM_001173454.1:c.1065del	NP_001166925.1:p.Met356CysfsTer8
NM_001173455.1:c.972del	NP_001166926.1:p.Met325CysfsTer8
NM_001173456.1:c.858del	NP_001166927.1:p.Met287CysfsTer8
XM_011545531.1:c.1086del	XP_011543833.1:p.Met363CysfsTer8
XM_011545532.1:c.993del	XP_011543834.1:p.Met332CysfsTer8
XM_017029574.2:c.972del	XP_016885063.1:p.Met325CysfsTer8
NM_000284.4:c.951del MANE Select	NP_000275.1:p.Met318CysfsTer8
NM_001173454.2:c.1065del	NP_001166925.1:p.Met356CysfsTer8
NM_001173455.2:c.972del	NP_001166926.1:p.Met325CysfsTer8
NM_001173456.2:c.858del	NP_001166927.1:p.Met287CysfsTer8