Canonical Allele Identifier: CA2579566421

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359025del , CM000685.2:g.19359025del	GRCh38
NC_000023.10:g.19377143del , CM000685.1:g.19377143del	GRCh37
NC_000023.9:g.19287064del	NCBI36
NG_016781.1:g.20133del
NG_021184.1:g.161238del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1029+1del
ENST00000379805.4:c.*700+1del
ENST00000417819.6:c.1092+1del
ENST00000423505.6:c.1122+1del
ENST00000481733.2:n.803+1del
ENST00000696704.1:c.*340+1del
ENST00000696705.1:c.*463+1del
ENST00000422285.7:c.1008+1del
ENST00000379804.1:c.165+1del
ENST00000379806.9:c.1122+1del
ENST00000422285.6:c.1008+1del
ENST00000478795.1:n.447+1del
ENST00000481733.1:n.437del
ENST00000540249.5:c.915+1del
ENST00000545074.5:c.1029+1del
NM_000284.3:c.1008+1del
NM_001173454.1:c.1122+1del
NM_001173455.1:c.1029+1del
NM_001173456.1:c.915+1del
XM_011545531.1:c.1143+1del
XM_011545532.1:c.1050+1del
XM_017029574.2:c.1029+1del
NM_000284.4:c.1008+1del
NM_001173454.2:c.1122+1del
NM_001173455.2:c.1029+1del
NM_001173456.2:c.915+1del