Canonical Allele Identifier: CA2693251017

Gene: PDHA1

Linked Data

• gnomAD v4: X-19358801-A-ACTTCTGTATTTCACCTCATTGGGACAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358803_19358830dup , CM000685.2:g.19358803_19358830dup	GRCh38
NC_000023.10:g.19376921_19376948dup , CM000685.1:g.19376921_19376948dup	GRCh37
NC_000023.9:g.19286842_19286869dup	NCBI36
NG_016781.1:g.19911_19938dup
NG_021184.1:g.161433_161460dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.921-113_921-86dup	ENSP00000348062.6:n.921-113_921-86dup
ENST00000379805.4:c.*592-113_*592-86dup	ENSP00000369133.3:n.*592-113_*592-86dup
ENST00000417819.6:c.984-113_984-86dup	ENSP00000404616.2:n.984-113_984-86dup
ENST00000423505.6:c.1014-113_1014-86dup	ENSP00000406473.2:n.1014-113_1014-86dup
ENST00000481733.2:n.695-113_695-86dup
ENST00000696704.1:c.*232-113_*232-86dup	ENSP00000512823.1:n.*232-113_*232-86dup
ENST00000696705.1:c.*355-113_*355-86dup	ENSP00000512824.1:n.*355-113_*355-86dup
ENST00000422285.7:c.900-113_900-86dup MANE Select	ENSP00000394382.2:n.900-113_900-86dup
ENST00000379804.1:c.57-113_57-86dup	ENSP00000369132.1:n.57-113_57-86dup
ENST00000379806.9:c.1014-113_1014-86dup	ENSP00000369134.5:n.1014-113_1014-86dup
ENST00000422285.6:c.900-113_900-86dup	ENSP00000394382.2:n.900-113_900-86dup
ENST00000478795.1:n.339-113_339-86dup
ENST00000481733.1:n.328-113_328-86dup
ENST00000540249.5:c.807-113_807-86dup	ENSP00000440761.1:n.807-113_807-86dup
ENST00000545074.5:c.921-113_921-86dup	ENSP00000438550.1:n.921-113_921-86dup
NM_000284.3:c.900-113_900-86dup	NP_000275.1:n.900-113_900-86dup
NM_001173454.1:c.1014-113_1014-86dup	NP_001166925.1:n.1014-113_1014-86dup
NM_001173455.1:c.921-113_921-86dup	NP_001166926.1:n.921-113_921-86dup
NM_001173456.1:c.807-113_807-86dup	NP_001166927.1:n.807-113_807-86dup
XM_011545531.1:c.1035-113_1035-86dup	XP_011543833.1:n.1035-113_1035-86dup
XM_011545532.1:c.942-113_942-86dup	XP_011543834.1:n.942-113_942-86dup
XM_017029574.2:c.921-113_921-86dup	XP_016885063.1:n.921-113_921-86dup
NM_000284.4:c.900-113_900-86dup MANE Select	NP_000275.1:n.900-113_900-86dup
NM_001173454.2:c.1014-113_1014-86dup	NP_001166925.1:n.1014-113_1014-86dup
NM_001173455.2:c.921-113_921-86dup	NP_001166926.1:n.921-113_921-86dup
NM_001173456.2:c.807-113_807-86dup	NP_001166927.1:n.807-113_807-86dup