Canonical Allele Identifier: CA916083855

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 842254
• ClinVar RCV Id: RCV001044643
• dbSNP Id: rs2063213396

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357694_19357701dup , CM000685.2:g.19357694_19357701dup	GRCh38
NC_000023.10:g.19375812_19375819dup , CM000685.1:g.19375812_19375819dup	GRCh37
NC_000023.9:g.19285733_19285740dup	NCBI36
NG_016781.1:g.18802_18809dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.895_902dup	ENSP00000348062.6:p.Met301IlefsTer4
ENST00000379805.4:c.*566_*573dup	ENSP00000369133.3:n.*566_*573dup
ENST00000417819.6:c.958_965dup	ENSP00000404616.2:p.Met322IlefsTer4
ENST00000423505.6:c.988_995dup	ENSP00000406473.2:p.Met332IlefsTer4
ENST00000481733.2:n.669_676dup
ENST00000696704.1:c.*206_*213dup	ENSP00000512823.1:n.*206_*213dup
ENST00000696705.1:c.*329_*336dup	ENSP00000512824.1:n.*329_*336dup
ENST00000422285.7:c.874_881dup MANE Select	ENSP00000394382.2:p.Met294IlefsTer4
ENST00000379804.1:c.31_38dup	ENSP00000369132.1:p.Met13IlefsTer4
ENST00000379806.9:c.988_995dup	ENSP00000369134.5:p.Met332IlefsTer4
ENST00000422285.6:c.874_881dup	ENSP00000394382.2:p.Met294IlefsTer4
ENST00000478795.1:n.313_320dup
ENST00000481733.1:n.302_309dup
ENST00000540249.5:c.781_788dup	ENSP00000440761.1:p.Met263IlefsTer4
ENST00000545074.5:c.895_902dup	ENSP00000438550.1:p.Met301IlefsTer4
NM_000284.3:c.874_881dup	NP_000275.1:p.Met294IlefsTer4
NM_001173454.1:c.988_995dup	NP_001166925.1:p.Met332IlefsTer4
NM_001173455.1:c.895_902dup	NP_001166926.1:p.Met301IlefsTer4
NM_001173456.1:c.781_788dup	NP_001166927.1:p.Met263IlefsTer4
XM_011545531.1:c.1009_1016dup	XP_011543833.1:p.Met339IlefsTer4
XM_011545532.1:c.916_923dup	XP_011543834.1:p.Met308IlefsTer4
XM_017029574.2:c.895_902dup	XP_016885063.1:p.Met301IlefsTer4
NM_000284.4:c.874_881dup MANE Select	NP_000275.1:p.Met294IlefsTer4
NM_001173454.2:c.988_995dup	NP_001166925.1:p.Met332IlefsTer4
NM_001173455.2:c.895_902dup	NP_001166926.1:p.Met301IlefsTer4
NM_001173456.2:c.781_788dup	NP_001166927.1:p.Met263IlefsTer4