Canonical Allele Identifier: CA2693251333

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359471-C-CTGTTACCTAATTTTTAGGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359473_19359493dup , CM000685.2:g.19359473_19359493dup	GRCh38
NC_000023.10:g.19377591_19377611dup , CM000685.1:g.19377591_19377611dup	GRCh37
NC_000023.9:g.19287512_19287532dup	NCBI36
NG_016781.1:g.20581_20601dup
NG_021184.1:g.160770_160790dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1030-16_1034dup
ENST00000379805.4:c.*701-16_*705dup
ENST00000417819.6:c.1093-16_1097dup
ENST00000423505.6:c.1123-16_1127dup
ENST00000481733.2:n.804-16_808dup
ENST00000696704.1:c.*341-16_*345dup
ENST00000696705.1:c.*464-16_*468dup
ENST00000422285.7:c.1009-16_1013dup
ENST00000379804.1:c.166-16_170dup
ENST00000379806.9:c.1123-16_1127dup
ENST00000422285.6:c.1009-16_1013dup
ENST00000478795.1:n.448-16_452dup
ENST00000540249.5:c.916-16_920dup
ENST00000545074.5:c.1030-16_1034dup
NM_000284.3:c.1009-16_1013dup
NM_001173454.1:c.1123-16_1127dup
NM_001173455.1:c.1030-16_1034dup
NM_001173456.1:c.916-16_920dup
XM_011545531.1:c.1144-16_1148dup
XM_011545532.1:c.1051-16_1055dup
XM_017029574.2:c.1030-16_1034dup
NM_000284.4:c.1009-16_1013dup
NM_001173454.2:c.1123-16_1127dup
NM_001173455.2:c.1030-16_1034dup
NM_001173456.2:c.916-16_920dup