Canonical Allele Identifier: CA16043300
Gene: PDHA1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358937_19358948dup , CM000685.2:g.19358937_19358948dup GRCh38
NC_000023.10:g.19377055_19377066dup , CM000685.1:g.19377055_19377066dup GRCh37
NC_000023.9:g.19286976_19286987dup NCBI36
NG_016781.1:g.20045_20056dup
NG_021184.1:g.161314_161325dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.942_953dup ENSP00000348062.6:p.Val317_Arg318insSerGlnGluVal
ENST00000379805.4:c.*613_*624dup ENSP00000369133.3:n.*613_*624dup
ENST00000417819.6:c.1005_1016dup ENSP00000404616.2:p.Val338_Arg339insSerGlnGluVal
ENST00000423505.6:c.1035_1046dup ENSP00000406473.2:p.Val348_Arg349insSerGlnGluVal
ENST00000481733.2:n.716_727dup
ENST00000696704.1:c.*253_*264dup ENSP00000512823.1:n.*253_*264dup
ENST00000696705.1:c.*376_*387dup ENSP00000512824.1:n.*376_*387dup
ENST00000422285.7:c.921_932dup MANE Select ENSP00000394382.2:p.Val310_Arg311insSerGlnGluVal
ENST00000379804.1:c.78_89dup ENSP00000369132.1:p.Val29_Arg30insSerGlnGluVal
ENST00000379806.9:c.1035_1046dup ENSP00000369134.5:p.Val348_Arg349insSerGlnGluVal
ENST00000422285.6:c.921_932dup ENSP00000394382.2:p.Val310_Arg311insSerGlnGluVal
ENST00000478795.1:n.360_371dup
ENST00000481733.1:n.349_360dup
ENST00000540249.5:c.828_839dup ENSP00000440761.1:p.Val279_Arg280insSerGlnGluVal
ENST00000545074.5:c.942_953dup ENSP00000438550.1:p.Val317_Arg318insSerGlnGluVal
NM_000284.3:c.921_932dup NP_000275.1:p.Val310_Arg311insSerGlnGluVal
NM_001173454.1:c.1035_1046dup NP_001166925.1:p.Val348_Arg349insSerGlnGluVal
NM_001173455.1:c.942_953dup NP_001166926.1:p.Val317_Arg318insSerGlnGluVal
NM_001173456.1:c.828_839dup NP_001166927.1:p.Val279_Arg280insSerGlnGluVal
XM_011545531.1:c.1056_1067dup XP_011543833.1:p.Val355_Arg356insSerGlnGluVal
XM_011545532.1:c.963_974dup XP_011543834.1:p.Val324_Arg325insSerGlnGluVal
XM_017029574.2:c.942_953dup XP_016885063.1:p.Val317_Arg318insSerGlnGluVal
NM_000284.4:c.921_932dup MANE Select NP_000275.1:p.Val310_Arg311insSerGlnGluVal
NM_001173454.2:c.1035_1046dup NP_001166925.1:p.Val348_Arg349insSerGlnGluVal
NM_001173455.2:c.942_953dup NP_001166926.1:p.Val317_Arg318insSerGlnGluVal
NM_001173456.2:c.828_839dup NP_001166927.1:p.Val279_Arg280insSerGlnGluVal
Search 100 bp 5'
Search 100 bp 3'