Canonical Allele Identifier: CA2819937231

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359906_19359929dup , CM000685.2:g.19359906_19359929dup	GRCh38
NC_000023.10:g.19378024_19378047dup , CM000685.1:g.19378024_19378047dup	GRCh37
NC_000023.9:g.19287945_19287968dup	NCBI36
NG_016781.1:g.21014_21037dup
NG_021184.1:g.160334_160357dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*253_*276dup	ENSP00000348062.6:n.*253_*276dup
ENST00000423505.6:c.*253_*276dup	ENSP00000406473.2:n.*253_*276dup
ENST00000696704.1:c.*758_*781dup	ENSP00000512823.1:n.*758_*781dup
ENST00000696705.1:c.*881_*904dup	ENSP00000512824.1:n.*881_*904dup
ENST00000422285.7:c.*253_*276dup MANE Select	ENSP00000394382.2:n.*253_*276dup
ENST00000379806.9:c.*253_*276dup	ENSP00000369134.5:n.*253_*276dup
ENST00000422285.6:c.*253_*276dup	ENSP00000394382.2:n.*253_*276dup
ENST00000540249.5:c.*253_*276dup	ENSP00000440761.1:n.*253_*276dup
ENST00000545074.5:c.*253_*276dup	ENSP00000438550.1:n.*253_*276dup
NM_000284.3:c.*253_*276dup	NP_000275.1:n.*253_*276dup
NM_001173454.1:c.*253_*276dup	NP_001166925.1:n.*253_*276dup
NM_001173455.1:c.*253_*276dup	NP_001166926.1:n.*253_*276dup
NM_001173456.1:c.*253_*276dup	NP_001166927.1:n.*253_*276dup
XM_011545531.1:c.*253_*276dup	XP_011543833.1:n.*253_*276dup
XM_011545532.1:c.*253_*276dup	XP_011543834.1:n.*253_*276dup
NM_000284.4:c.*253_*276dup MANE Select	NP_000275.1:n.*253_*276dup
NM_001173454.2:c.*253_*276dup	NP_001166925.1:n.*253_*276dup
NM_001173455.2:c.*253_*276dup	NP_001166926.1:n.*253_*276dup
NM_001173456.2:c.*253_*276dup	NP_001166927.1:n.*253_*276dup