Canonical Allele Identifier: CA2579566471

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359536del , CM000685.2:g.19359536del	GRCh38
NC_000023.10:g.19377654del , CM000685.1:g.19377654del	GRCh37
NC_000023.9:g.19287575del	NCBI36
NG_016781.1:g.20644del
NG_021184.1:g.160728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1077del	ENSP00000348062.6:p.Phe359LeufsTer?
ENST00000379805.4:c.*748del	ENSP00000369133.3:n.*748del
ENST00000417819.6:c.1140del	ENSP00000404616.2:p.Phe380LeufsTer?
ENST00000423505.6:c.1170del	ENSP00000406473.2:p.Phe390LeufsTer?
ENST00000481733.2:n.851del
ENST00000696704.1:c.*388del	ENSP00000512823.1:n.*388del
ENST00000696705.1:c.*511del	ENSP00000512824.1:n.*511del
ENST00000422285.7:c.1056del MANE Select	ENSP00000394382.2:p.Phe352LeufsTer?
ENST00000379804.1:c.213del	ENSP00000369132.1:p.Phe71LeufsTer?
ENST00000379806.9:c.1170del	ENSP00000369134.5:p.Phe390LeufsTer?
ENST00000422285.6:c.1056del	ENSP00000394382.2:p.Phe352LeufsTer?
ENST00000478795.1:n.495del
ENST00000540249.5:c.963del	ENSP00000440761.1:p.Phe321LeufsTer?
ENST00000545074.5:c.1077del	ENSP00000438550.1:p.Phe359LeufsTer?
NM_000284.3:c.1056del	NP_000275.1:p.Phe352LeufsTer?
NM_001173454.1:c.1170del	NP_001166925.1:p.Phe390LeufsTer?
NM_001173455.1:c.1077del	NP_001166926.1:p.Phe359LeufsTer?
NM_001173456.1:c.963del	NP_001166927.1:p.Phe321LeufsTer?
XM_011545531.1:c.1191del	XP_011543833.1:p.Phe397LeufsTer?
XM_011545532.1:c.1098del	XP_011543834.1:p.Phe366LeufsTer?
XM_017029574.2:c.1077del	XP_016885063.1:p.Phe359LeufsTer?
NM_000284.4:c.1056del MANE Select	NP_000275.1:p.Phe352LeufsTer?
NM_001173454.2:c.1170del	NP_001166925.1:p.Phe390LeufsTer?
NM_001173455.2:c.1077del	NP_001166926.1:p.Phe359LeufsTer?
NM_001173456.2:c.963del	NP_001166927.1:p.Phe321LeufsTer?