Canonical Allele Identifier: CA2579566469

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359528del , CM000685.2:g.19359528del	GRCh38
NC_000023.10:g.19377646del , CM000685.1:g.19377646del	GRCh37
NC_000023.9:g.19287567del	NCBI36
NG_016781.1:g.20636del
NG_021184.1:g.160734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1069del	ENSP00000348062.6:p.Ala357ProfsTer?
ENST00000379805.4:c.*740del	ENSP00000369133.3:n.*740del
ENST00000417819.6:c.1132del	ENSP00000404616.2:p.Ala378ProfsTer?
ENST00000423505.6:c.1162del	ENSP00000406473.2:p.Ala388ProfsTer?
ENST00000481733.2:n.843del
ENST00000696704.1:c.*380del	ENSP00000512823.1:n.*380del
ENST00000696705.1:c.*503del	ENSP00000512824.1:n.*503del
ENST00000422285.7:c.1048del MANE Select	ENSP00000394382.2:p.Ala350ProfsTer?
ENST00000379804.1:c.205del	ENSP00000369132.1:p.Ala69ProfsTer?
ENST00000379806.9:c.1162del	ENSP00000369134.5:p.Ala388ProfsTer?
ENST00000422285.6:c.1048del	ENSP00000394382.2:p.Ala350ProfsTer?
ENST00000478795.1:n.487del
ENST00000540249.5:c.955del	ENSP00000440761.1:p.Ala319ProfsTer?
ENST00000545074.5:c.1069del	ENSP00000438550.1:p.Ala357ProfsTer?
NM_000284.3:c.1048del	NP_000275.1:p.Ala350ProfsTer?
NM_001173454.1:c.1162del	NP_001166925.1:p.Ala388ProfsTer?
NM_001173455.1:c.1069del	NP_001166926.1:p.Ala357ProfsTer?
NM_001173456.1:c.955del	NP_001166927.1:p.Ala319ProfsTer?
XM_011545531.1:c.1183del	XP_011543833.1:p.Ala395ProfsTer?
XM_011545532.1:c.1090del	XP_011543834.1:p.Ala364ProfsTer?
XM_017029574.2:c.1069del	XP_016885063.1:p.Ala357ProfsTer?
NM_000284.4:c.1048del MANE Select	NP_000275.1:p.Ala350ProfsTer?
NM_001173454.2:c.1162del	NP_001166925.1:p.Ala388ProfsTer?
NM_001173455.2:c.1069del	NP_001166926.1:p.Ala357ProfsTer?
NM_001173456.2:c.955del	NP_001166927.1:p.Ala319ProfsTer?