Canonical Allele Identifier: CA2695231639

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353092_19353094del , CM000685.2:g.19353092_19353094del	GRCh38
NC_000023.10:g.19371210_19371212del , CM000685.1:g.19371210_19371212del	GRCh37
NC_000023.9:g.19281131_19281133del	NCBI36
NG_016781.1:g.14200_14202del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.450_452del	ENSP00000348062.6:p.Gly151del
ENST00000379805.4:c.429_431del	ENSP00000369133.3:p.Gly144del
ENST00000417819.6:c.513_515del	ENSP00000404616.2:p.Gly172del
ENST00000423505.6:c.543_545del	ENSP00000406473.2:p.Gly182del
ENST00000696704.1:c.418+1685_418+1687del	ENSP00000512823.1:n.418+1685_418+1687del
ENST00000696705.1:c.419-1399_419-1397del	ENSP00000512824.1:n.419-1399_419-1397del
ENST00000422285.7:c.429_431del MANE Select	ENSP00000394382.2:p.Gly144del
ENST00000355808.9:c.450_452del	ENSP00000348062.5:p.Gly151del
ENST00000379805.3:c.429_431del	ENSP00000369133.3:p.Gly144del
ENST00000379806.9:c.543_545del	ENSP00000369134.5:p.Gly182del
ENST00000422285.6:c.429_431del	ENSP00000394382.2:p.Gly144del
ENST00000423505.5:c.543_545del	ENSP00000406473.1:p.Gly182del
ENST00000479146.1:n.264_266del
ENST00000540249.5:c.429_431del	ENSP00000440761.1:p.Gly144del
ENST00000545074.5:c.450_452del	ENSP00000438550.1:p.Gly151del
NM_000284.3:c.429_431del	NP_000275.1:p.Gly144del
NM_001173454.1:c.543_545del	NP_001166925.1:p.Gly182del
NM_001173455.1:c.450_452del	NP_001166926.1:p.Gly151del
NM_001173456.1:c.429_431del	NP_001166927.1:p.Gly144del
XM_011545531.1:c.564_566del	XP_011543833.1:p.Gly189del
XM_011545532.1:c.564_566del	XP_011543834.1:p.Gly189del
XM_017029574.2:c.543_545del	XP_016885063.1:p.Gly182del
NM_000284.4:c.429_431del MANE Select	NP_000275.1:p.Gly144del
NM_001173454.2:c.543_545del	NP_001166925.1:p.Gly182del
NM_001173455.2:c.450_452del	NP_001166926.1:p.Gly151del
NM_001173456.2:c.429_431del	NP_001166927.1:p.Gly144del