Canonical Allele Identifier: CA2695231678

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359624_19359639dup , CM000685.2:g.19359624_19359639dup	GRCh38
NC_000023.10:g.19377742_19377757dup , CM000685.1:g.19377742_19377757dup	GRCh37
NC_000023.9:g.19287663_19287678dup	NCBI36
NG_016781.1:g.20732_20747dup
NG_021184.1:g.160623_160638dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1165_1180dup	ENSP00000348062.6:p.Lys394ThrfsTer6
ENST00000379805.4:c.*836_*851dup	ENSP00000369133.3:n.*836_*851dup
ENST00000417819.6:c.1228_1243dup	ENSP00000404616.2:p.Lys415ThrfsTer6
ENST00000423505.6:c.1258_1273dup	ENSP00000406473.2:p.Lys425ThrfsTer6
ENST00000481733.2:n.939_954dup
ENST00000696704.1:c.*476_*491dup	ENSP00000512823.1:n.*476_*491dup
ENST00000696705.1:c.*599_*614dup	ENSP00000512824.1:n.*599_*614dup
ENST00000422285.7:c.1144_1159dup MANE Select	ENSP00000394382.2:p.Lys387ThrfsTer6
ENST00000379804.1:c.301_316dup	ENSP00000369132.1:p.Lys106ThrfsTer6
ENST00000379806.9:c.1258_1273dup	ENSP00000369134.5:p.Lys425ThrfsTer6
ENST00000422285.6:c.1144_1159dup	ENSP00000394382.2:p.Lys387ThrfsTer6
ENST00000478795.1:n.583_598dup
ENST00000540249.5:c.1051_1066dup	ENSP00000440761.1:p.Lys356ThrfsTer6
ENST00000545074.5:c.1165_1180dup	ENSP00000438550.1:p.Lys394ThrfsTer6
NM_000284.3:c.1144_1159dup	NP_000275.1:p.Lys387ThrfsTer6
NM_001173454.1:c.1258_1273dup	NP_001166925.1:p.Lys425ThrfsTer6
NM_001173455.1:c.1165_1180dup	NP_001166926.1:p.Lys394ThrfsTer6
NM_001173456.1:c.1051_1066dup	NP_001166927.1:p.Lys356ThrfsTer6
XM_011545531.1:c.1279_1294dup	XP_011543833.1:p.Lys432ThrfsTer6
XM_011545532.1:c.1186_1201dup	XP_011543834.1:p.Lys401ThrfsTer6
XM_017029574.2:c.1165_1180dup	XP_016885063.1:p.Lys394ThrfsTer6
NM_000284.4:c.1144_1159dup MANE Select	NP_000275.1:p.Lys387ThrfsTer6
NM_001173454.2:c.1258_1273dup	NP_001166925.1:p.Lys425ThrfsTer6
NM_001173455.2:c.1165_1180dup	NP_001166926.1:p.Lys394ThrfsTer6
NM_001173456.2:c.1051_1066dup	NP_001166927.1:p.Lys356ThrfsTer6