Canonical Allele Identifier: CA2579566470

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359530_19359531del , CM000685.2:g.19359530_19359531del	GRCh38
NC_000023.10:g.19377648_19377649del , CM000685.1:g.19377648_19377649del	GRCh37
NC_000023.9:g.19287569_19287570del	NCBI36
NG_016781.1:g.20638_20639del
NG_021184.1:g.160732_160733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1071_1072del	ENSP00000348062.6:p.Gln358ValfsTer7
ENST00000379805.4:c.*742_*743del	ENSP00000369133.3:n.*742_*743del
ENST00000417819.6:c.1134_1135del	ENSP00000404616.2:p.Gln379ValfsTer7
ENST00000423505.6:c.1164_1165del	ENSP00000406473.2:p.Gln389ValfsTer7
ENST00000481733.2:n.845_846del
ENST00000696704.1:c.*382_*383del	ENSP00000512823.1:n.*382_*383del
ENST00000696705.1:c.*505_*506del	ENSP00000512824.1:n.*505_*506del
ENST00000422285.7:c.1050_1051del MANE Select	ENSP00000394382.2:p.Gln351ValfsTer7
ENST00000379804.1:c.207_208del	ENSP00000369132.1:p.Gln70ValfsTer7
ENST00000379806.9:c.1164_1165del	ENSP00000369134.5:p.Gln389ValfsTer7
ENST00000422285.6:c.1050_1051del	ENSP00000394382.2:p.Gln351ValfsTer7
ENST00000478795.1:n.489_490del
ENST00000540249.5:c.957_958del	ENSP00000440761.1:p.Gln320ValfsTer7
ENST00000545074.5:c.1071_1072del	ENSP00000438550.1:p.Gln358ValfsTer7
NM_000284.3:c.1050_1051del	NP_000275.1:p.Gln351ValfsTer7
NM_001173454.1:c.1164_1165del	NP_001166925.1:p.Gln389ValfsTer7
NM_001173455.1:c.1071_1072del	NP_001166926.1:p.Gln358ValfsTer7
NM_001173456.1:c.957_958del	NP_001166927.1:p.Gln320ValfsTer7
XM_011545531.1:c.1185_1186del	XP_011543833.1:p.Gln396ValfsTer7
XM_011545532.1:c.1092_1093del	XP_011543834.1:p.Gln365ValfsTer7
XM_017029574.2:c.1071_1072del	XP_016885063.1:p.Gln358ValfsTer7
NM_000284.4:c.1050_1051del MANE Select	NP_000275.1:p.Gln351ValfsTer7
NM_001173454.2:c.1164_1165del	NP_001166925.1:p.Gln389ValfsTer7
NM_001173455.2:c.1071_1072del	NP_001166926.1:p.Gln358ValfsTer7
NM_001173456.2:c.957_958del	NP_001166927.1:p.Gln320ValfsTer7