Canonical Allele Identifier: CA2569326286

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359793_19359794insCCGTATCAT , CM000685.2:g.19359793_19359794insCCGTATCAT	GRCh38
NC_000023.10:g.19377911_19377912insCCGTATCAT , CM000685.1:g.19377911_19377912insCCGTATCAT	GRCh37
NC_000023.9:g.19287832_19287833insCCGTATCAT	NCBI36
NG_016781.1:g.20901_20902insCCGTATCAT
NG_021184.1:g.160468_160469insATGATACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*140_*141insCCGTATCAT	ENSP00000348062.6:n.*140_*141insCCGTATCAT
ENST00000379805.4:c.*1005_*1006insCCGTATCAT	ENSP00000369133.3:n.*1005_*1006insCCGTATCAT
ENST00000417819.6:c.*140_*141insCCGTATCAT	ENSP00000404616.2:n.*140_*141insCCGTATCAT
ENST00000423505.6:c.*140_*141insCCGTATCAT	ENSP00000406473.2:n.*140_*141insCCGTATCAT
ENST00000481733.2:n.1108_1109insCCGTATCAT
ENST00000696704.1:c.*645_*646insCCGTATCAT	ENSP00000512823.1:n.*645_*646insCCGTATCAT
ENST00000696705.1:c.*768_*769insCCGTATCAT	ENSP00000512824.1:n.*768_*769insCCGTATCAT
ENST00000422285.7:c.*140_*141insCCGTATCAT MANE Select	ENSP00000394382.2:n.*140_*141insCCGTATCAT
ENST00000379804.1:c.*140_*141insCCGTATCAT	ENSP00000369132.1:n.*140_*141insCCGTATCAT
ENST00000379806.9:c.*140_*141insCCGTATCAT	ENSP00000369134.5:n.*140_*141insCCGTATCAT
ENST00000422285.6:c.*140_*141insCCGTATCAT	ENSP00000394382.2:n.*140_*141insCCGTATCAT
ENST00000478795.1:n.752_753insCCGTATCAT
ENST00000540249.5:c.*140_*141insCCGTATCAT	ENSP00000440761.1:n.*140_*141insCCGTATCAT
ENST00000545074.5:c.*140_*141insCCGTATCAT	ENSP00000438550.1:n.*140_*141insCCGTATCAT
NM_000284.3:c.*140_*141insCCGTATCAT	NP_000275.1:n.*140_*141insCCGTATCAT
NM_001173454.1:c.*140_*141insCCGTATCAT	NP_001166925.1:n.*140_*141insCCGTATCAT
NM_001173455.1:c.*140_*141insCCGTATCAT	NP_001166926.1:n.*140_*141insCCGTATCAT
NM_001173456.1:c.*140_*141insCCGTATCAT	NP_001166927.1:n.*140_*141insCCGTATCAT
XM_011545531.1:c.*140_*141insCCGTATCAT	XP_011543833.1:n.*140_*141insCCGTATCAT
XM_011545532.1:c.*140_*141insCCGTATCAT	XP_011543834.1:n.*140_*141insCCGTATCAT
XM_017029574.2:c.*140_*141insCCGTATCAT	XP_016885063.1:n.*140_*141insCCGTATCAT
NM_000284.4:c.*140_*141insCCGTATCAT MANE Select	NP_000275.1:n.*140_*141insCCGTATCAT
NM_001173454.2:c.*140_*141insCCGTATCAT	NP_001166925.1:n.*140_*141insCCGTATCAT
NM_001173455.2:c.*140_*141insCCGTATCAT	NP_001166926.1:n.*140_*141insCCGTATCAT
NM_001173456.2:c.*140_*141insCCGTATCAT	NP_001166927.1:n.*140_*141insCCGTATCAT