Canonical Allele Identifier: CA2579566420

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358954del , CM000685.2:g.19358954del	GRCh38
NC_000023.10:g.19377072del , CM000685.1:g.19377072del	GRCh37
NC_000023.9:g.19286993del	NCBI36
NG_016781.1:g.20062del
NG_021184.1:g.161309del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.959del	ENSP00000348062.6:p.Lys320ArgfsTer13
ENST00000379805.4:c.*630del	ENSP00000369133.3:n.*630del
ENST00000417819.6:c.1022del	ENSP00000404616.2:p.Lys341ArgfsTer13
ENST00000423505.6:c.1052del	ENSP00000406473.2:p.Lys351ArgfsTer13
ENST00000481733.2:n.733del
ENST00000696704.1:c.*270del	ENSP00000512823.1:n.*270del
ENST00000696705.1:c.*393del	ENSP00000512824.1:n.*393del
ENST00000422285.7:c.938del MANE Select	ENSP00000394382.2:p.Lys313ArgfsTer13
ENST00000379804.1:c.95del	ENSP00000369132.1:p.Lys32ArgfsTer13
ENST00000379806.9:c.1052del	ENSP00000369134.5:p.Lys351ArgfsTer13
ENST00000422285.6:c.938del	ENSP00000394382.2:p.Lys313ArgfsTer13
ENST00000478795.1:n.377del
ENST00000481733.1:n.366del
ENST00000540249.5:c.845del	ENSP00000440761.1:p.Lys282ArgfsTer13
ENST00000545074.5:c.959del	ENSP00000438550.1:p.Lys320ArgfsTer13
NM_000284.3:c.938del	NP_000275.1:p.Lys313ArgfsTer13
NM_001173454.1:c.1052del	NP_001166925.1:p.Lys351ArgfsTer13
NM_001173455.1:c.959del	NP_001166926.1:p.Lys320ArgfsTer13
NM_001173456.1:c.845del	NP_001166927.1:p.Lys282ArgfsTer13
XM_011545531.1:c.1073del	XP_011543833.1:p.Lys358ArgfsTer13
XM_011545532.1:c.980del	XP_011543834.1:p.Lys327ArgfsTer13
XM_017029574.2:c.959del	XP_016885063.1:p.Lys320ArgfsTer13
NM_000284.4:c.938del MANE Select	NP_000275.1:p.Lys313ArgfsTer13
NM_001173454.2:c.1052del	NP_001166925.1:p.Lys351ArgfsTer13
NM_001173455.2:c.959del	NP_001166926.1:p.Lys320ArgfsTer13
NM_001173456.2:c.845del	NP_001166927.1:p.Lys282ArgfsTer13