Canonical Allele Identifier: CA2695231662

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359016_19359018del , CM000685.2:g.19359016_19359018del	GRCh38
NC_000023.10:g.19377134_19377136del , CM000685.1:g.19377134_19377136del	GRCh37
NC_000023.9:g.19287055_19287057del	NCBI36
NG_016781.1:g.20124_20126del
NG_021184.1:g.161247_161249del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1021_1023del	ENSP00000348062.6:p.Glu341del
ENST00000379805.4:c.*692_*694del	ENSP00000369133.3:n.*692_*694del
ENST00000417819.6:c.1084_1086del	ENSP00000404616.2:p.Glu362del
ENST00000423505.6:c.1114_1116del	ENSP00000406473.2:p.Glu372del
ENST00000481733.2:n.795_797del
ENST00000696704.1:c.*332_*334del	ENSP00000512823.1:n.*332_*334del
ENST00000696705.1:c.*455_*457del	ENSP00000512824.1:n.*455_*457del
ENST00000422285.7:c.1000_1002del MANE Select	ENSP00000394382.2:p.Glu334del
ENST00000379804.1:c.157_159del	ENSP00000369132.1:p.Glu53del
ENST00000379806.9:c.1114_1116del	ENSP00000369134.5:p.Glu372del
ENST00000422285.6:c.1000_1002del	ENSP00000394382.2:p.Glu334del
ENST00000478795.1:n.439_441del
ENST00000481733.1:n.428_430del
ENST00000540249.5:c.907_909del	ENSP00000440761.1:p.Glu303del
ENST00000545074.5:c.1021_1023del	ENSP00000438550.1:p.Glu341del
NM_000284.3:c.1000_1002del	NP_000275.1:p.Glu334del
NM_001173454.1:c.1114_1116del	NP_001166925.1:p.Glu372del
NM_001173455.1:c.1021_1023del	NP_001166926.1:p.Glu341del
NM_001173456.1:c.907_909del	NP_001166927.1:p.Glu303del
XM_011545531.1:c.1135_1137del	XP_011543833.1:p.Glu379del
XM_011545532.1:c.1042_1044del	XP_011543834.1:p.Glu348del
XM_017029574.2:c.1021_1023del	XP_016885063.1:p.Glu341del
NM_000284.4:c.1000_1002del MANE Select	NP_000275.1:p.Glu334del
NM_001173454.2:c.1114_1116del	NP_001166925.1:p.Glu372del
NM_001173455.2:c.1021_1023del	NP_001166926.1:p.Glu341del
NM_001173456.2:c.907_909del	NP_001166927.1:p.Glu303del