Canonical Allele Identifier: CA1131433710

Gene: PDHA1

Linked Data

• gnomAD v3: X-19358037-G-GA
• gnomAD v4: X-19358037-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358037_19358038insA , CM000685.2:g.19358037_19358038insA	GRCh38
NC_000023.10:g.19376155_19376156insA , CM000685.1:g.19376155_19376156insA	GRCh37
NC_000023.9:g.19286076_19286077insA	NCBI36
NG_016781.1:g.19145_19146insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+318_920+319insA	ENSP00000348062.6:n.920+318_920+319insA
ENST00000379805.4:c.*591+318_*591+319insA	ENSP00000369133.3:n.*591+318_*591+319insA
ENST00000417819.6:c.983+318_983+319insA	ENSP00000404616.2:n.983+318_983+319insA
ENST00000423505.6:c.1013+318_1013+319insA	ENSP00000406473.2:n.1013+318_1013+319insA
ENST00000481733.2:n.694+318_694+319insA
ENST00000696704.1:c.*231+318_*231+319insA	ENSP00000512823.1:n.*231+318_*231+319insA
ENST00000696705.1:c.*354+318_*354+319insA	ENSP00000512824.1:n.*354+318_*354+319insA
ENST00000422285.7:c.899+318_899+319insA MANE Select	ENSP00000394382.2:n.899+318_899+319insA
ENST00000379804.1:c.56+318_56+319insA	ENSP00000369132.1:n.56+318_56+319insA
ENST00000379806.9:c.1013+318_1013+319insA	ENSP00000369134.5:n.1013+318_1013+319insA
ENST00000422285.6:c.899+318_899+319insA	ENSP00000394382.2:n.899+318_899+319insA
ENST00000478795.1:n.338+318_338+319insA
ENST00000481733.1:n.327+318_327+319insA
ENST00000540249.5:c.806+318_806+319insA	ENSP00000440761.1:n.806+318_806+319insA
ENST00000545074.5:c.920+318_920+319insA	ENSP00000438550.1:n.920+318_920+319insA
NM_000284.3:c.899+318_899+319insA	NP_000275.1:n.899+318_899+319insA
NM_001173454.1:c.1013+318_1013+319insA	NP_001166925.1:n.1013+318_1013+319insA
NM_001173455.1:c.920+318_920+319insA	NP_001166926.1:n.920+318_920+319insA
NM_001173456.1:c.806+318_806+319insA	NP_001166927.1:n.806+318_806+319insA
XM_011545531.1:c.1034+318_1034+319insA	XP_011543833.1:n.1034+318_1034+319insA
XM_011545532.1:c.941+318_941+319insA	XP_011543834.1:n.941+318_941+319insA
XM_017029574.2:c.920+318_920+319insA	XP_016885063.1:n.920+318_920+319insA
NM_000284.4:c.899+318_899+319insA MANE Select	NP_000275.1:n.899+318_899+319insA
NM_001173454.2:c.1013+318_1013+319insA	NP_001166925.1:n.1013+318_1013+319insA
NM_001173455.2:c.920+318_920+319insA	NP_001166926.1:n.920+318_920+319insA
NM_001173456.2:c.806+318_806+319insA	NP_001166927.1:n.806+318_806+319insA