Canonical Allele Identifier: CA3250154404

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359624_19359627dup , CM000685.2:g.19359624_19359627dup	GRCh38
NC_000023.10:g.19377742_19377745dup , CM000685.1:g.19377742_19377745dup	GRCh37
NC_000023.9:g.19287663_19287666dup	NCBI36
NG_016781.1:g.20732_20735dup
NG_021184.1:g.160636_160639dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.1144_1147dup MANE Select	NP_000275.1:p.Trp383SerfsTer6
ENST00000422285.7:c.1144_1147dup MANE Select	ENSP00000394382.2:p.Trp383SerfsTer6
NM_000284.3:c.1144_1147dup	NP_000275.1:p.Trp383SerfsTer6
NM_001173454.1:c.1258_1261dup	NP_001166925.1:p.Trp421SerfsTer6
NM_001173454.2:c.1258_1261dup	NP_001166925.1:p.Trp421SerfsTer6
NM_001173455.1:c.1165_1168dup	NP_001166926.1:p.Trp390SerfsTer6
NM_001173455.2:c.1165_1168dup	NP_001166926.1:p.Trp390SerfsTer6
NM_001173456.1:c.1051_1054dup	NP_001166927.1:p.Trp352SerfsTer6
NM_001173456.2:c.1051_1054dup	NP_001166927.1:p.Trp352SerfsTer6
ENST00000355808.10:c.1165_1168dup	ENSP00000348062.6:p.Trp390SerfsTer6
ENST00000379804.1:c.301_304dup	ENSP00000369132.1:p.Trp102SerfsTer6
ENST00000379805.4:c.*836_*839dup	ENSP00000369133.3:n.*836_*839dup
ENST00000379806.9:c.1258_1261dup	ENSP00000369134.5:p.Trp421SerfsTer6
ENST00000417819.6:c.1228_1231dup	ENSP00000404616.2:p.Trp411SerfsTer6
ENST00000422285.6:c.1144_1147dup	ENSP00000394382.2:p.Trp383SerfsTer6
ENST00000423505.6:c.1258_1261dup	ENSP00000406473.2:p.Trp421SerfsTer6
ENST00000478795.1:n.583_586dup
ENST00000481733.2:n.939_942dup
ENST00000540249.5:c.1051_1054dup	ENSP00000440761.1:p.Trp352SerfsTer6
ENST00000545074.5:c.1165_1168dup	ENSP00000438550.1:p.Trp390SerfsTer6
ENST00000696704.1:c.*476_*479dup	ENSP00000512823.1:n.*476_*479dup
ENST00000696705.1:c.*599_*602dup	ENSP00000512824.1:n.*599_*602dup
XM_011545531.1:c.1279_1282dup	XP_011543833.1:p.Trp428SerfsTer6
XM_011545532.1:c.1186_1189dup	XP_011543834.1:p.Trp397SerfsTer6
XM_017029574.2:c.1165_1168dup	XP_016885063.1:p.Trp390SerfsTer6