Canonical Allele Identifier: CA640522681

Gene: PDHA1

Linked Data

• dbSNP Id: rs1555935698
• gnomAD v2: X-19377855-A-ATGAAATTCAATGAAATTCTTGG
• gnomAD v3: X-19359737-A-ATGAAATTCAATGAAATTCTTGG
• gnomAD v4: X-19359737-A-ATGAAATTCAATGAAATTCTTGG
• MyVariant Identifiers: chrX:g.19377855_19377856insTGAAATTCAATGAAATTCTTGG (hg19) ; chrX:g.19359737_19359738insTGAAATTCAATGAAATTCTTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359738_19359759dup , CM000685.2:g.19359738_19359759dup	GRCh38
NC_000023.10:g.19377856_19377877dup , CM000685.1:g.19377856_19377877dup	GRCh37
NC_000023.9:g.19287777_19287798dup	NCBI36
NG_016781.1:g.20846_20867dup
NG_021184.1:g.160503_160524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*85_*106dup	ENSP00000348062.6:n.*85_*106dup
ENST00000379805.4:c.*950_*971dup	ENSP00000369133.3:n.*950_*971dup
ENST00000417819.6:c.*85_*106dup	ENSP00000404616.2:n.*85_*106dup
ENST00000423505.6:c.*85_*106dup	ENSP00000406473.2:n.*85_*106dup
ENST00000481733.2:n.1053_1074dup
ENST00000696704.1:c.*590_*611dup	ENSP00000512823.1:n.*590_*611dup
ENST00000696705.1:c.*713_*734dup	ENSP00000512824.1:n.*713_*734dup
ENST00000422285.7:c.*85_*106dup MANE Select	ENSP00000394382.2:n.*85_*106dup
ENST00000379804.1:c.*85_*106dup	ENSP00000369132.1:n.*85_*106dup
ENST00000379806.9:c.*85_*106dup	ENSP00000369134.5:n.*85_*106dup
ENST00000422285.6:c.*85_*106dup	ENSP00000394382.2:n.*85_*106dup
ENST00000478795.1:n.697_718dup
ENST00000540249.5:c.*85_*106dup	ENSP00000440761.1:n.*85_*106dup
ENST00000545074.5:c.*85_*106dup	ENSP00000438550.1:n.*85_*106dup
NM_000284.3:c.*85_*106dup	NP_000275.1:n.*85_*106dup
NM_001173454.1:c.*85_*106dup	NP_001166925.1:n.*85_*106dup
NM_001173455.1:c.*85_*106dup	NP_001166926.1:n.*85_*106dup
NM_001173456.1:c.*85_*106dup	NP_001166927.1:n.*85_*106dup
XM_011545531.1:c.*85_*106dup	XP_011543833.1:n.*85_*106dup
XM_011545532.1:c.*85_*106dup	XP_011543834.1:n.*85_*106dup
XM_017029574.2:c.*85_*106dup	XP_016885063.1:n.*85_*106dup
NM_000284.4:c.*85_*106dup MANE Select	NP_000275.1:n.*85_*106dup
NM_001173454.2:c.*85_*106dup	NP_001166925.1:n.*85_*106dup
NM_001173455.2:c.*85_*106dup	NP_001166926.1:n.*85_*106dup
NM_001173456.2:c.*85_*106dup	NP_001166927.1:n.*85_*106dup