Canonical Allele Identifier: CA2418225686

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359730_19359744delinsCCAGTCAATGAAATT , CM000685.2:g.19359730_19359744delinsCCAGTCAATGAAATT	GRCh38
NC_000023.10:g.19377848_19377862delinsCCAGTCAATGAAATT , CM000685.1:g.19377848_19377862delinsCCAGTCAATGAAATT	GRCh37
NC_000023.9:g.19287769_19287783delinsCCAGTCAATGAAATT	NCBI36
NG_016781.1:g.20838_20852delinsCCAGTCAATGAAATT
NG_021184.1:g.160518_160532delinsAATTTCATTGACTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*77_*91delinsCCAGTCAATGAAATT	ENSP00000348062.6:n.*77_*91delinsCCAGTCAATGAAATT
ENST00000379805.4:c.*942_*956delinsCCAGTCAATGAAATT	ENSP00000369133.3:n.*942_*956delinsCCAGTCAATGAAATT
ENST00000417819.6:c.*77_*91delinsCCAGTCAATGAAATT	ENSP00000404616.2:n.*77_*91delinsCCAGTCAATGAAATT
ENST00000423505.6:c.*77_*91delinsCCAGTCAATGAAATT	ENSP00000406473.2:n.*77_*91delinsCCAGTCAATGAAATT
ENST00000481733.2:n.1045_1059delinsCCAGTCAATGAAATT
ENST00000696704.1:c.*582_*596delinsCCAGTCAATGAAATT	ENSP00000512823.1:n.*582_*596delinsCCAGTCAATGAAATT
ENST00000696705.1:c.*705_*719delinsCCAGTCAATGAAATT	ENSP00000512824.1:n.*705_*719delinsCCAGTCAATGAAATT
ENST00000422285.7:c.*77_*91delinsCCAGTCAATGAAATT MANE Select	ENSP00000394382.2:n.*77_*91delinsCCAGTCAATGAAATT
ENST00000379804.1:c.*77_*91delinsCCAGTCAATGAAATT	ENSP00000369132.1:n.*77_*91delinsCCAGTCAATGAAATT
ENST00000379806.9:c.*77_*91delinsCCAGTCAATGAAATT	ENSP00000369134.5:n.*77_*91delinsCCAGTCAATGAAATT
ENST00000422285.6:c.*77_*91delinsCCAGTCAATGAAATT	ENSP00000394382.2:n.*77_*91delinsCCAGTCAATGAAATT
ENST00000478795.1:n.689_703delinsCCAGTCAATGAAATT
ENST00000540249.5:c.*77_*91delinsCCAGTCAATGAAATT	ENSP00000440761.1:n.*77_*91delinsCCAGTCAATGAAATT
ENST00000545074.5:c.*77_*91delinsCCAGTCAATGAAATT	ENSP00000438550.1:n.*77_*91delinsCCAGTCAATGAAATT
NM_000284.3:c.*77_*91delinsCCAGTCAATGAAATT	NP_000275.1:n.*77_*91delinsCCAGTCAATGAAATT
NM_001173454.1:c.*77_*91delinsCCAGTCAATGAAATT	NP_001166925.1:n.*77_*91delinsCCAGTCAATGAAATT
NM_001173455.1:c.*77_*91delinsCCAGTCAATGAAATT	NP_001166926.1:n.*77_*91delinsCCAGTCAATGAAATT
NM_001173456.1:c.*77_*91delinsCCAGTCAATGAAATT	NP_001166927.1:n.*77_*91delinsCCAGTCAATGAAATT
XM_011545531.1:c.*77_*91delinsCCAGTCAATGAAATT	XP_011543833.1:n.*77_*91delinsCCAGTCAATGAAATT
XM_011545532.1:c.*77_*91delinsCCAGTCAATGAAATT	XP_011543834.1:n.*77_*91delinsCCAGTCAATGAAATT
XM_017029574.2:c.*77_*91delinsCCAGTCAATGAAATT	XP_016885063.1:n.*77_*91delinsCCAGTCAATGAAATT
NM_000284.4:c.*77_*91delinsCCAGTCAATGAAATT MANE Select	NP_000275.1:n.*77_*91delinsCCAGTCAATGAAATT
NM_001173454.2:c.*77_*91delinsCCAGTCAATGAAATT	NP_001166925.1:n.*77_*91delinsCCAGTCAATGAAATT
NM_001173455.2:c.*77_*91delinsCCAGTCAATGAAATT	NP_001166926.1:n.*77_*91delinsCCAGTCAATGAAATT
NM_001173456.2:c.*77_*91delinsCCAGTCAATGAAATT	NP_001166927.1:n.*77_*91delinsCCAGTCAATGAAATT