Canonical Allele Identifier: CA640522667

Gene: PDHA1

Linked Data

• dbSNP Id: rs1372604679
• gnomAD v2: X-19377838-GGAAGAAAACCCA-G
• gnomAD v4: X-19359720-GGAAGAAAACCCA-G
• MyVariant Identifiers: chrX:g.19377839_19377850del (hg19) ; chrX:g.19359721_19359732del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359722_19359733del , CM000685.2:g.19359722_19359733del	GRCh38
NC_000023.10:g.19377840_19377851del , CM000685.1:g.19377840_19377851del	GRCh37
NC_000023.9:g.19287761_19287772del	NCBI36
NG_016781.1:g.20830_20841del
NG_021184.1:g.160530_160541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*69_*80del	ENSP00000348062.6:n.*69_*80del
ENST00000379805.4:c.*934_*945del	ENSP00000369133.3:n.*934_*945del
ENST00000417819.6:c.*69_*80del	ENSP00000404616.2:n.*69_*80del
ENST00000423505.6:c.*69_*80del	ENSP00000406473.2:n.*69_*80del
ENST00000481733.2:n.1037_1048del
ENST00000696704.1:c.*574_*585del	ENSP00000512823.1:n.*574_*585del
ENST00000696705.1:c.*697_*708del	ENSP00000512824.1:n.*697_*708del
ENST00000422285.7:c.*69_*80del MANE Select	ENSP00000394382.2:n.*69_*80del
ENST00000379804.1:c.*69_*80del	ENSP00000369132.1:n.*69_*80del
ENST00000379806.9:c.*69_*80del	ENSP00000369134.5:n.*69_*80del
ENST00000422285.6:c.*69_*80del	ENSP00000394382.2:n.*69_*80del
ENST00000478795.1:n.681_692del
ENST00000540249.5:c.*69_*80del	ENSP00000440761.1:n.*69_*80del
ENST00000545074.5:c.*69_*80del	ENSP00000438550.1:n.*69_*80del
NM_000284.3:c.*69_*80del	NP_000275.1:n.*69_*80del
NM_001173454.1:c.*69_*80del	NP_001166925.1:n.*69_*80del
NM_001173455.1:c.*69_*80del	NP_001166926.1:n.*69_*80del
NM_001173456.1:c.*69_*80del	NP_001166927.1:n.*69_*80del
XM_011545531.1:c.*69_*80del	XP_011543833.1:n.*69_*80del
XM_011545532.1:c.*69_*80del	XP_011543834.1:n.*69_*80del
XM_017029574.2:c.*69_*80del	XP_016885063.1:n.*69_*80del
NM_000284.4:c.*69_*80del MANE Select	NP_000275.1:n.*69_*80del
NM_001173454.2:c.*69_*80del	NP_001166925.1:n.*69_*80del
NM_001173455.2:c.*69_*80del	NP_001166926.1:n.*69_*80del
NM_001173456.2:c.*69_*80del	NP_001166927.1:n.*69_*80del