Canonical Allele Identifier: CA2693251605

Gene: PDHA1

Linked Data

• gnomAD v4: X-19360052-A-ATC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19360053_19360054insCT , CM000685.2:g.19360053_19360054insCT	GRCh38
NC_000023.10:g.19378171_19378172insCT , CM000685.1:g.19378171_19378172insCT	GRCh37
NC_000023.9:g.19288092_19288093insCT	NCBI36
NG_016781.1:g.21161_21162insCT
NG_021184.1:g.160209_160210insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*400_*401insCT	ENSP00000348062.6:n.*400_*401insCT
ENST00000423505.6:c.*400_*401insCT	ENSP00000406473.2:n.*400_*401insCT
ENST00000696704.1:c.*905_*906insCT	ENSP00000512823.1:n.*905_*906insCT
ENST00000696705.1:c.*1028_*1029insCT	ENSP00000512824.1:n.*1028_*1029insCT
ENST00000422285.7:c.*400_*401insCT MANE Select	ENSP00000394382.2:n.*400_*401insCT
ENST00000379806.9:c.*400_*401insCT	ENSP00000369134.5:n.*400_*401insCT
ENST00000422285.6:c.*400_*401insCT	ENSP00000394382.2:n.*400_*401insCT
ENST00000540249.5:c.*400_*401insCT	ENSP00000440761.1:n.*400_*401insCT
ENST00000545074.5:c.*400_*401insCT	ENSP00000438550.1:n.*400_*401insCT
NM_000284.3:c.*400_*401insCT	NP_000275.1:n.*400_*401insCT
NM_001173454.1:c.*400_*401insCT	NP_001166925.1:n.*400_*401insCT
NM_001173455.1:c.*400_*401insCT	NP_001166926.1:n.*400_*401insCT
NM_001173456.1:c.*400_*401insCT	NP_001166927.1:n.*400_*401insCT
XM_011545531.1:c.*400_*401insCT	XP_011543833.1:n.*400_*401insCT
XM_011545532.1:c.*400_*401insCT	XP_011543834.1:n.*400_*401insCT
NM_000284.4:c.*400_*401insCT MANE Select	NP_000275.1:n.*400_*401insCT
NM_001173454.2:c.*400_*401insCT	NP_001166925.1:n.*400_*401insCT
NM_001173455.2:c.*400_*401insCT	NP_001166926.1:n.*400_*401insCT
NM_001173456.2:c.*400_*401insCT	NP_001166927.1:n.*400_*401insCT