Canonical Allele Identifier: CA2580100436

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2121087
• ClinVar RCV Id: RCV003027900

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359523_19359533del , CM000685.2:g.19359523_19359533del	GRCh38
NC_000023.10:g.19377641_19377651del , CM000685.1:g.19377641_19377651del	GRCh37
NC_000023.9:g.19287562_19287572del	NCBI36
NG_016781.1:g.20631_20641del
NG_021184.1:g.160730_160740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1064_1074del	ENSP00000348062.6:p.Asp355ValfsTer7
ENST00000379805.4:c.*735_*745del	ENSP00000369133.3:n.*735_*745del
ENST00000417819.6:c.1127_1137del	ENSP00000404616.2:p.Asp376ValfsTer7
ENST00000423505.6:c.1157_1167del	ENSP00000406473.2:p.Asp386ValfsTer7
ENST00000481733.2:n.838_848del
ENST00000696704.1:c.*375_*385del	ENSP00000512823.1:n.*375_*385del
ENST00000696705.1:c.*498_*508del	ENSP00000512824.1:n.*498_*508del
ENST00000422285.7:c.1043_1053del MANE Select	ENSP00000394382.2:p.Asp348ValfsTer7
ENST00000379804.1:c.200_210del	ENSP00000369132.1:p.Asp67ValfsTer7
ENST00000379806.9:c.1157_1167del	ENSP00000369134.5:p.Asp386ValfsTer7
ENST00000422285.6:c.1043_1053del	ENSP00000394382.2:p.Asp348ValfsTer7
ENST00000478795.1:n.482_492del
ENST00000540249.5:c.950_960del	ENSP00000440761.1:p.Asp317ValfsTer7
ENST00000545074.5:c.1064_1074del	ENSP00000438550.1:p.Asp355ValfsTer7
NM_000284.3:c.1043_1053del	NP_000275.1:p.Asp348ValfsTer7
NM_001173454.1:c.1157_1167del	NP_001166925.1:p.Asp386ValfsTer7
NM_001173455.1:c.1064_1074del	NP_001166926.1:p.Asp355ValfsTer7
NM_001173456.1:c.950_960del	NP_001166927.1:p.Asp317ValfsTer7
XM_011545531.1:c.1178_1188del	XP_011543833.1:p.Asp393ValfsTer7
XM_011545532.1:c.1085_1095del	XP_011543834.1:p.Asp362ValfsTer7
XM_017029574.2:c.1064_1074del	XP_016885063.1:p.Asp355ValfsTer7
NM_000284.4:c.1043_1053del MANE Select	NP_000275.1:p.Asp348ValfsTer7
NM_001173454.2:c.1157_1167del	NP_001166925.1:p.Asp386ValfsTer7
NM_001173455.2:c.1064_1074del	NP_001166926.1:p.Asp355ValfsTer7
NM_001173456.2:c.950_960del	NP_001166927.1:p.Asp317ValfsTer7