Canonical Allele Identifier: CA2693250043

Gene: PDHA1

Linked Data

• gnomAD v4: X-19352952-A-AGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19352953_19352955dup , CM000685.2:g.19352953_19352955dup	GRCh38
NC_000023.10:g.19371071_19371073dup , CM000685.1:g.19371071_19371073dup	GRCh37
NC_000023.9:g.19280992_19280994dup	NCBI36
NG_016781.1:g.14061_14063dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.440-129_440-127dup	ENSP00000348062.6:n.440-129_440-127dup
ENST00000379805.4:c.419-129_419-127dup	ENSP00000369133.3:n.419-129_419-127dup
ENST00000417819.6:c.503-129_503-127dup	ENSP00000404616.2:n.503-129_503-127dup
ENST00000423505.6:c.533-129_533-127dup	ENSP00000406473.2:n.533-129_533-127dup
ENST00000696704.1:c.418+1546_418+1548dup	ENSP00000512823.1:n.418+1546_418+1548dup
ENST00000696705.1:c.419-1538_419-1536dup	ENSP00000512824.1:n.419-1538_419-1536dup
ENST00000422285.7:c.419-129_419-127dup MANE Select	ENSP00000394382.2:n.419-129_419-127dup
ENST00000355808.9:c.440-129_440-127dup	ENSP00000348062.5:n.440-129_440-127dup
ENST00000379805.3:c.419-129_419-127dup	ENSP00000369133.3:n.419-129_419-127dup
ENST00000379806.9:c.533-129_533-127dup	ENSP00000369134.5:n.533-129_533-127dup
ENST00000422285.6:c.419-129_419-127dup	ENSP00000394382.2:n.419-129_419-127dup
ENST00000423505.5:c.533-129_533-127dup	ENSP00000406473.1:n.533-129_533-127dup
ENST00000479146.1:n.125_127dup
ENST00000540249.5:c.419-129_419-127dup	ENSP00000440761.1:n.419-129_419-127dup
ENST00000545074.5:c.440-129_440-127dup	ENSP00000438550.1:n.440-129_440-127dup
NM_000284.3:c.419-129_419-127dup	NP_000275.1:n.419-129_419-127dup
NM_001173454.1:c.533-129_533-127dup	NP_001166925.1:n.533-129_533-127dup
NM_001173455.1:c.440-129_440-127dup	NP_001166926.1:n.440-129_440-127dup
NM_001173456.1:c.419-129_419-127dup	NP_001166927.1:n.419-129_419-127dup
XM_011545531.1:c.554-129_554-127dup	XP_011543833.1:n.554-129_554-127dup
XM_011545532.1:c.554-129_554-127dup	XP_011543834.1:n.554-129_554-127dup
XM_017029574.2:c.533-129_533-127dup	XP_016885063.1:n.533-129_533-127dup
NM_000284.4:c.419-129_419-127dup MANE Select	NP_000275.1:n.419-129_419-127dup
NM_001173454.2:c.533-129_533-127dup	NP_001166925.1:n.533-129_533-127dup
NM_001173455.2:c.440-129_440-127dup	NP_001166926.1:n.440-129_440-127dup
NM_001173456.2:c.419-129_419-127dup	NP_001166927.1:n.419-129_419-127dup