Canonical Allele Identifier: CA2693251319

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359458-A-AAAACCTTTTACACTGTTACCTAATTTTTAGGAAATTGATGTGGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359459_19359504dup , CM000685.2:g.19359459_19359504dup	GRCh38
NC_000023.10:g.19377577_19377622dup , CM000685.1:g.19377577_19377622dup	GRCh37
NC_000023.9:g.19287498_19287543dup	NCBI36
NG_016781.1:g.20567_20612dup
NG_021184.1:g.160758_160803dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1030-30_1045dup
ENST00000379805.4:c.*701-30_*716dup
ENST00000417819.6:c.1093-30_1108dup
ENST00000423505.6:c.1123-30_1138dup
ENST00000481733.2:n.804-30_819dup
ENST00000696704.1:c.*341-30_*356dup
ENST00000696705.1:c.*464-30_*479dup
ENST00000422285.7:c.1009-30_1024dup
ENST00000379804.1:c.166-30_181dup
ENST00000379806.9:c.1123-30_1138dup
ENST00000422285.6:c.1009-30_1024dup
ENST00000478795.1:n.448-30_463dup
ENST00000540249.5:c.916-30_931dup
ENST00000545074.5:c.1030-30_1045dup
NM_000284.3:c.1009-30_1024dup
NM_001173454.1:c.1123-30_1138dup
NM_001173455.1:c.1030-30_1045dup
NM_001173456.1:c.916-30_931dup
XM_011545531.1:c.1144-30_1159dup
XM_011545532.1:c.1051-30_1066dup
XM_017029574.2:c.1030-30_1045dup
NM_000284.4:c.1009-30_1024dup
NM_001173454.2:c.1123-30_1138dup
NM_001173455.2:c.1030-30_1045dup
NM_001173456.2:c.916-30_931dup