Canonical Allele Identifier: CA2739268103

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2776094
• ClinVar RCV Id: RCV003621726

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359637_19359681dup , CM000685.2:g.19359637_19359681dup	GRCh38
NC_000023.10:g.19377755_19377799dup , CM000685.1:g.19377755_19377799dup	GRCh37
NC_000023.9:g.19287676_19287720dup	NCBI36
NG_016781.1:g.20745_20789dup
NG_021184.1:g.160581_160625dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1178_*28dup	ENSP00000348062.6:n.1178_*28dup
ENST00000379805.4:c.*849_*893dup	ENSP00000369133.3:n.*849_*893dup
ENST00000417819.6:c.1241_*28dup	ENSP00000404616.2:n.1241_*28dup
ENST00000423505.6:c.1271_*28dup	ENSP00000406473.2:n.1271_*28dup
ENST00000481733.2:n.952_996dup
ENST00000696704.1:c.*489_*533dup	ENSP00000512823.1:n.*489_*533dup
ENST00000696705.1:c.*612_*656dup	ENSP00000512824.1:n.*612_*656dup
ENST00000422285.7:c.1157_*28dup MANE Select	ENSP00000394382.2:n.1157_*28dup
ENST00000379804.1:c.314_*28dup	ENSP00000369132.1:n.314_*28dup
ENST00000379806.9:c.1271_*28dup	ENSP00000369134.5:n.1271_*28dup
ENST00000422285.6:c.1157_*28dup	ENSP00000394382.2:n.1157_*28dup
ENST00000478795.1:n.596_640dup
ENST00000540249.5:c.1064_*28dup	ENSP00000440761.1:n.1064_*28dup
ENST00000545074.5:c.1178_*28dup	ENSP00000438550.1:n.1178_*28dup
NM_000284.3:c.1157_*28dup	NP_000275.1:n.1157_*28dup
NM_001173454.1:c.1271_*28dup	NP_001166925.1:n.1271_*28dup
NM_001173455.1:c.1178_*28dup	NP_001166926.1:n.1178_*28dup
NM_001173456.1:c.1064_*28dup	NP_001166927.1:n.1064_*28dup
XM_011545531.1:c.1292_*28dup	XP_011543833.1:n.1292_*28dup
XM_011545532.1:c.1199_*28dup	XP_011543834.1:n.1199_*28dup
XM_017029574.2:c.1178_*28dup	XP_016885063.1:n.1178_*28dup
NM_000284.4:c.1157_*28dup MANE Select	NP_000275.1:n.1157_*28dup
NM_001173454.2:c.1271_*28dup	NP_001166925.1:n.1271_*28dup
NM_001173455.2:c.1178_*28dup	NP_001166926.1:n.1178_*28dup
NM_001173456.2:c.1064_*28dup	NP_001166927.1:n.1064_*28dup