Canonical Allele Identifier: CA327029779

Gene: PDHA1

Linked Data

• dbSNP Id: rs954559084
• gnomAD v3: X-19357881-TAAG-T
• gnomAD v4: X-19357881-TAAG-T
• MyVariant Identifiers: chrX:g.19376000_19376002del (hg19) ; chrX:g.19357882_19357884del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357884_19357886del , CM000685.2:g.19357884_19357886del	GRCh38
NC_000023.10:g.19376002_19376004del , CM000685.1:g.19376002_19376004del	GRCh37
NC_000023.9:g.19285923_19285925del	NCBI36
NG_016781.1:g.18992_18994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+165_920+167del	ENSP00000348062.6:n.920+165_920+167del
ENST00000379805.4:c.*591+165_*591+167del	ENSP00000369133.3:n.*591+165_*591+167del
ENST00000417819.6:c.983+165_983+167del	ENSP00000404616.2:n.983+165_983+167del
ENST00000423505.6:c.1013+165_1013+167del	ENSP00000406473.2:n.1013+165_1013+167del
ENST00000481733.2:n.694+165_694+167del
ENST00000696704.1:c.*231+165_*231+167del	ENSP00000512823.1:n.*231+165_*231+167del
ENST00000696705.1:c.*354+165_*354+167del	ENSP00000512824.1:n.*354+165_*354+167del
ENST00000422285.7:c.899+165_899+167del MANE Select	ENSP00000394382.2:n.899+165_899+167del
ENST00000379804.1:c.56+165_56+167del	ENSP00000369132.1:n.56+165_56+167del
ENST00000379806.9:c.1013+165_1013+167del	ENSP00000369134.5:n.1013+165_1013+167del
ENST00000422285.6:c.899+165_899+167del	ENSP00000394382.2:n.899+165_899+167del
ENST00000478795.1:n.338+165_338+167del
ENST00000481733.1:n.327+165_327+167del
ENST00000540249.5:c.806+165_806+167del	ENSP00000440761.1:n.806+165_806+167del
ENST00000545074.5:c.920+165_920+167del	ENSP00000438550.1:n.920+165_920+167del
NM_000284.3:c.899+165_899+167del	NP_000275.1:n.899+165_899+167del
NM_001173454.1:c.1013+165_1013+167del	NP_001166925.1:n.1013+165_1013+167del
NM_001173455.1:c.920+165_920+167del	NP_001166926.1:n.920+165_920+167del
NM_001173456.1:c.806+165_806+167del	NP_001166927.1:n.806+165_806+167del
XM_011545531.1:c.1034+165_1034+167del	XP_011543833.1:n.1034+165_1034+167del
XM_011545532.1:c.941+165_941+167del	XP_011543834.1:n.941+165_941+167del
XM_017029574.2:c.920+165_920+167del	XP_016885063.1:n.920+165_920+167del
NM_000284.4:c.899+165_899+167del MANE Select	NP_000275.1:n.899+165_899+167del
NM_001173454.2:c.1013+165_1013+167del	NP_001166925.1:n.1013+165_1013+167del
NM_001173455.2:c.920+165_920+167del	NP_001166926.1:n.920+165_920+167del
NM_001173456.2:c.806+165_806+167del	NP_001166927.1:n.806+165_806+167del