Canonical Allele Identifier: CA515486389

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377133_19377136dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359015_19359018dup , CM000685.2:g.19359015_19359018dup	GRCh38
NC_000023.10:g.19377133_19377136dup , CM000685.1:g.19377133_19377136dup	GRCh37
NC_000023.9:g.19287054_19287057dup	NCBI36
NG_016781.1:g.20123_20126dup
NG_021184.1:g.161245_161248dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1020_1023dup	ENSP00000348062.6:p.Leu342ArgfsTer6
ENST00000379805.4:c.*691_*694dup	ENSP00000369133.3:n.*691_*694dup
ENST00000417819.6:c.1083_1086dup	ENSP00000404616.2:p.Leu363ArgfsTer6
ENST00000423505.6:c.1113_1116dup	ENSP00000406473.2:p.Leu373ArgfsTer6
ENST00000481733.2:n.794_797dup
ENST00000696704.1:c.*331_*334dup	ENSP00000512823.1:n.*331_*334dup
ENST00000696705.1:c.*454_*457dup	ENSP00000512824.1:n.*454_*457dup
ENST00000422285.7:c.999_1002dup MANE Select	ENSP00000394382.2:p.Leu335ArgfsTer6
ENST00000379804.1:c.156_159dup	ENSP00000369132.1:p.Leu54ArgfsTer6
ENST00000379806.9:c.1113_1116dup	ENSP00000369134.5:p.Leu373ArgfsTer6
ENST00000422285.6:c.999_1002dup	ENSP00000394382.2:p.Leu335ArgfsTer6
ENST00000478795.1:n.438_441dup
ENST00000481733.1:n.427_430dup
ENST00000540249.5:c.906_909dup	ENSP00000440761.1:p.Leu304ArgfsTer6
ENST00000545074.5:c.1020_1023dup	ENSP00000438550.1:p.Leu342ArgfsTer6
NM_000284.3:c.999_1002dup	NP_000275.1:p.Leu335ArgfsTer6
NM_001173454.1:c.1113_1116dup	NP_001166925.1:p.Leu373ArgfsTer6
NM_001173455.1:c.1020_1023dup	NP_001166926.1:p.Leu342ArgfsTer6
NM_001173456.1:c.906_909dup	NP_001166927.1:p.Leu304ArgfsTer6
XM_011545531.1:c.1134_1137dup	XP_011543833.1:p.Leu380ArgfsTer6
XM_011545532.1:c.1041_1044dup	XP_011543834.1:p.Leu349ArgfsTer6
XM_017029574.2:c.1020_1023dup	XP_016885063.1:p.Leu342ArgfsTer6
NM_000284.4:c.999_1002dup MANE Select	NP_000275.1:p.Leu335ArgfsTer6
NM_001173454.2:c.1113_1116dup	NP_001166925.1:p.Leu373ArgfsTer6
NM_001173455.2:c.1020_1023dup	NP_001166926.1:p.Leu342ArgfsTer6
NM_001173456.2:c.906_909dup	NP_001166927.1:p.Leu304ArgfsTer6