Canonical Allele Identifier: CA2693251102

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359014-A-AAGAACTAAAGGTACAGTCACTTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359015_19359038dup , CM000685.2:g.19359015_19359038dup	GRCh38
NC_000023.10:g.19377133_19377156dup , CM000685.1:g.19377133_19377156dup	GRCh37
NC_000023.9:g.19287054_19287077dup	NCBI36
NG_016781.1:g.20123_20146dup
NG_021184.1:g.161224_161247dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1020_1029+14dup
ENST00000379805.4:c.*691_*700+14dup
ENST00000417819.6:c.1083_1092+14dup
ENST00000423505.6:c.1113_1122+14dup
ENST00000481733.2:n.794_803+14dup
ENST00000696704.1:c.*331_*340+14dup
ENST00000696705.1:c.*454_*463+14dup
ENST00000422285.7:c.999_1008+14dup
ENST00000379804.1:c.156_165+14dup
ENST00000379806.9:c.1113_1122+14dup
ENST00000422285.6:c.999_1008+14dup
ENST00000478795.1:n.438_447+14dup
ENST00000540249.5:c.906_915+14dup
ENST00000545074.5:c.1020_1029+14dup
NM_000284.3:c.999_1008+14dup
NM_001173454.1:c.1113_1122+14dup
NM_001173455.1:c.1020_1029+14dup
NM_001173456.1:c.906_915+14dup
XM_011545531.1:c.1134_1143+14dup
XM_011545532.1:c.1041_1050+14dup
XM_017029574.2:c.1020_1029+14dup
NM_000284.4:c.999_1008+14dup
NM_001173454.2:c.1113_1122+14dup
NM_001173455.2:c.1020_1029+14dup
NM_001173456.2:c.906_915+14dup