Canonical Allele Identifier: CA2579566382

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357657del , CM000685.2:g.19357657del	GRCh38
NC_000023.10:g.19375775del , CM000685.1:g.19375775del	GRCh37
NC_000023.9:g.19285696del	NCBI36
NG_016781.1:g.18765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.858del	ENSP00000348062.6:p.Ile287SerfsTer2
ENST00000379805.4:c.*529del	ENSP00000369133.3:n.*529del
ENST00000417819.6:c.921del	ENSP00000404616.2:p.Ile308SerfsTer2
ENST00000423505.6:c.951del	ENSP00000406473.2:p.Ile318SerfsTer2
ENST00000481733.2:n.632del
ENST00000696704.1:c.*169del	ENSP00000512823.1:n.*169del
ENST00000696705.1:c.*292del	ENSP00000512824.1:n.*292del
ENST00000422285.7:c.837del MANE Select	ENSP00000394382.2:p.Ile280SerfsTer2
ENST00000379804.1:c.-7del	ENSP00000369132.1:n.-7del
ENST00000379806.9:c.951del	ENSP00000369134.5:p.Ile318SerfsTer2
ENST00000422285.6:c.837del	ENSP00000394382.2:p.Ile280SerfsTer2
ENST00000478795.1:n.276del
ENST00000481733.1:n.265del
ENST00000540249.5:c.744del	ENSP00000440761.1:p.Ile249SerfsTer2
ENST00000545074.5:c.858del	ENSP00000438550.1:p.Ile287SerfsTer2
NM_000284.3:c.837del	NP_000275.1:p.Ile280SerfsTer2
NM_001173454.1:c.951del	NP_001166925.1:p.Ile318SerfsTer2
NM_001173455.1:c.858del	NP_001166926.1:p.Ile287SerfsTer2
NM_001173456.1:c.744del	NP_001166927.1:p.Ile249SerfsTer2
XM_011545531.1:c.972del	XP_011543833.1:p.Ile325SerfsTer2
XM_011545532.1:c.879del	XP_011543834.1:p.Ile294SerfsTer2
XM_017029574.2:c.858del	XP_016885063.1:p.Ile287SerfsTer2
NM_000284.4:c.837del MANE Select	NP_000275.1:p.Ile280SerfsTer2
NM_001173454.2:c.951del	NP_001166925.1:p.Ile318SerfsTer2
NM_001173455.2:c.858del	NP_001166926.1:p.Ile287SerfsTer2
NM_001173456.2:c.744del	NP_001166927.1:p.Ile249SerfsTer2