Canonical Allele Identifier: CA2693251103

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359019-C-CTAAAGGTACAGTCACTTGTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359021_19359042dup , CM000685.2:g.19359021_19359042dup	GRCh38
NC_000023.10:g.19377139_19377160dup , CM000685.1:g.19377139_19377160dup	GRCh37
NC_000023.9:g.19287060_19287081dup	NCBI36
NG_016781.1:g.20129_20150dup
NG_021184.1:g.161221_161242dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1026_1029+18dup
ENST00000379805.4:c.*697_*700+18dup
ENST00000417819.6:c.1089_1092+18dup
ENST00000423505.6:c.1119_1122+18dup
ENST00000481733.2:n.800_803+18dup
ENST00000696704.1:c.*337_*340+18dup
ENST00000696705.1:c.*460_*463+18dup
ENST00000422285.7:c.1005_1008+18dup
ENST00000379804.1:c.162_165+18dup
ENST00000379806.9:c.1119_1122+18dup
ENST00000422285.6:c.1005_1008+18dup
ENST00000478795.1:n.444_447+18dup
ENST00000540249.5:c.912_915+18dup
ENST00000545074.5:c.1026_1029+18dup
NM_000284.3:c.1005_1008+18dup
NM_001173454.1:c.1119_1122+18dup
NM_001173455.1:c.1026_1029+18dup
NM_001173456.1:c.912_915+18dup
XM_011545531.1:c.1140_1143+18dup
XM_011545532.1:c.1047_1050+18dup
XM_017029574.2:c.1026_1029+18dup
NM_000284.4:c.1005_1008+18dup
NM_001173454.2:c.1119_1122+18dup
NM_001173455.2:c.1026_1029+18dup
NM_001173456.2:c.912_915+18dup