Canonical Allele Identifier: CA2695231669

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359543_19359548del , CM000685.2:g.19359543_19359548del	GRCh38
NC_000023.10:g.19377661_19377666del , CM000685.1:g.19377661_19377666del	GRCh37
NC_000023.9:g.19287582_19287587del	NCBI36
NG_016781.1:g.20651_20656del
NG_021184.1:g.160714_160719del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1084_1089del	ENSP00000348062.6:p.Ala362_Asp363del
ENST00000379805.4:c.*755_*760del	ENSP00000369133.3:n.*755_*760del
ENST00000417819.6:c.1147_1152del	ENSP00000404616.2:p.Ala383_Asp384del
ENST00000423505.6:c.1177_1182del	ENSP00000406473.2:p.Ala393_Asp394del
ENST00000481733.2:n.858_863del
ENST00000696704.1:c.*395_*400del	ENSP00000512823.1:n.*395_*400del
ENST00000696705.1:c.*518_*523del	ENSP00000512824.1:n.*518_*523del
ENST00000422285.7:c.1063_1068del MANE Select	ENSP00000394382.2:p.Ala355_Asp356del
ENST00000379804.1:c.220_225del	ENSP00000369132.1:p.Ala74_Asp75del
ENST00000379806.9:c.1177_1182del	ENSP00000369134.5:p.Ala393_Asp394del
ENST00000422285.6:c.1063_1068del	ENSP00000394382.2:p.Ala355_Asp356del
ENST00000478795.1:n.502_507del
ENST00000540249.5:c.970_975del	ENSP00000440761.1:p.Ala324_Asp325del
ENST00000545074.5:c.1084_1089del	ENSP00000438550.1:p.Ala362_Asp363del
NM_000284.3:c.1063_1068del	NP_000275.1:p.Ala355_Asp356del
NM_001173454.1:c.1177_1182del	NP_001166925.1:p.Ala393_Asp394del
NM_001173455.1:c.1084_1089del	NP_001166926.1:p.Ala362_Asp363del
NM_001173456.1:c.970_975del	NP_001166927.1:p.Ala324_Asp325del
XM_011545531.1:c.1198_1203del	XP_011543833.1:p.Ala400_Asp401del
XM_011545532.1:c.1105_1110del	XP_011543834.1:p.Ala369_Asp370del
XM_017029574.2:c.1084_1089del	XP_016885063.1:p.Ala362_Asp363del
NM_000284.4:c.1063_1068del MANE Select	NP_000275.1:p.Ala355_Asp356del
NM_001173454.2:c.1177_1182del	NP_001166925.1:p.Ala393_Asp394del
NM_001173455.2:c.1084_1089del	NP_001166926.1:p.Ala362_Asp363del
NM_001173456.2:c.970_975del	NP_001166927.1:p.Ala324_Asp325del