Canonical Allele Identifier: CA2695231652

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358937_19358952dup , CM000685.2:g.19358937_19358952dup	GRCh38
NC_000023.10:g.19377055_19377070dup , CM000685.1:g.19377055_19377070dup	GRCh37
NC_000023.9:g.19286976_19286991dup	NCBI36
NG_016781.1:g.20045_20060dup
NG_021184.1:g.161311_161326dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.942_957dup	ENSP00000348062.6:p.Lys320SerfsTer6
ENST00000379805.4:c.*613_*628dup	ENSP00000369133.3:n.*613_*628dup
ENST00000417819.6:c.1005_1020dup	ENSP00000404616.2:p.Lys341SerfsTer6
ENST00000423505.6:c.1035_1050dup	ENSP00000406473.2:p.Lys351SerfsTer6
ENST00000481733.2:n.716_731dup
ENST00000696704.1:c.*253_*268dup	ENSP00000512823.1:n.*253_*268dup
ENST00000696705.1:c.*376_*391dup	ENSP00000512824.1:n.*376_*391dup
ENST00000422285.7:c.921_936dup MANE Select	ENSP00000394382.2:p.Lys313SerfsTer6
ENST00000379804.1:c.78_93dup	ENSP00000369132.1:p.Lys32SerfsTer6
ENST00000379806.9:c.1035_1050dup	ENSP00000369134.5:p.Lys351SerfsTer6
ENST00000422285.6:c.921_936dup	ENSP00000394382.2:p.Lys313SerfsTer6
ENST00000478795.1:n.360_375dup
ENST00000481733.1:n.349_364dup
ENST00000540249.5:c.828_843dup	ENSP00000440761.1:p.Lys282SerfsTer6
ENST00000545074.5:c.942_957dup	ENSP00000438550.1:p.Lys320SerfsTer6
NM_000284.3:c.921_936dup	NP_000275.1:p.Lys313SerfsTer6
NM_001173454.1:c.1035_1050dup	NP_001166925.1:p.Lys351SerfsTer6
NM_001173455.1:c.942_957dup	NP_001166926.1:p.Lys320SerfsTer6
NM_001173456.1:c.828_843dup	NP_001166927.1:p.Lys282SerfsTer6
XM_011545531.1:c.1056_1071dup	XP_011543833.1:p.Lys358SerfsTer6
XM_011545532.1:c.963_978dup	XP_011543834.1:p.Lys327SerfsTer6
XM_017029574.2:c.942_957dup	XP_016885063.1:p.Lys320SerfsTer6
NM_000284.4:c.921_936dup MANE Select	NP_000275.1:p.Lys313SerfsTer6
NM_001173454.2:c.1035_1050dup	NP_001166925.1:p.Lys351SerfsTer6
NM_001173455.2:c.942_957dup	NP_001166926.1:p.Lys320SerfsTer6
NM_001173456.2:c.828_843dup	NP_001166927.1:p.Lys282SerfsTer6