Canonical Allele Identifier: CA2693251045
Community Standard Title: NM_000284.4(PDHA1):c.900-75_900-67dup
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358841_19358849dup , CM000685.2:g.19358841_19358849dup GRCh38
NC_000023.10:g.19376959_19376967dup , CM000685.1:g.19376959_19376967dup GRCh37
NC_000023.9:g.19286880_19286888dup NCBI36
NG_016781.1:g.19949_19957dup
NG_021184.1:g.161413_161421dup

Transcript Alleles

HGVS Amino-acid Change
NM_000284.4:c.900-75_900-67dup MANE Select NP_000275.1:n.900-75_900-67dup
ENST00000422285.7:c.900-75_900-67dup MANE Select ENSP00000394382.2:n.900-75_900-67dup
NM_000284.3:c.900-75_900-67dup NP_000275.1:n.900-75_900-67dup
NM_001173454.1:c.1014-75_1014-67dup NP_001166925.1:n.1014-75_1014-67dup
NM_001173454.2:c.1014-75_1014-67dup NP_001166925.1:n.1014-75_1014-67dup
NM_001173455.1:c.921-75_921-67dup NP_001166926.1:n.921-75_921-67dup
NM_001173455.2:c.921-75_921-67dup NP_001166926.1:n.921-75_921-67dup
NM_001173456.1:c.807-75_807-67dup NP_001166927.1:n.807-75_807-67dup
NM_001173456.2:c.807-75_807-67dup NP_001166927.1:n.807-75_807-67dup
ENST00000355808.10:c.921-75_921-67dup ENSP00000348062.6:n.921-75_921-67dup
ENST00000379804.1:c.57-75_57-67dup ENSP00000369132.1:n.57-75_57-67dup
ENST00000379805.4:c.*592-75_*592-67dup ENSP00000369133.3:n.*592-75_*592-67dup
ENST00000379806.9:c.1014-75_1014-67dup ENSP00000369134.5:n.1014-75_1014-67dup
ENST00000417819.6:c.984-75_984-67dup ENSP00000404616.2:n.984-75_984-67dup
ENST00000422285.6:c.900-75_900-67dup ENSP00000394382.2:n.900-75_900-67dup
ENST00000423505.6:c.1014-75_1014-67dup ENSP00000406473.2:n.1014-75_1014-67dup
ENST00000478795.1:n.339-75_339-67dup
ENST00000481733.1:n.328-75_328-67dup
ENST00000481733.2:n.695-75_695-67dup
ENST00000540249.5:c.807-75_807-67dup ENSP00000440761.1:n.807-75_807-67dup
ENST00000545074.5:c.921-75_921-67dup ENSP00000438550.1:n.921-75_921-67dup
ENST00000696704.1:c.*232-75_*232-67dup ENSP00000512823.1:n.*232-75_*232-67dup
ENST00000696705.1:c.*355-75_*355-67dup ENSP00000512824.1:n.*355-75_*355-67dup
XM_011545531.1:c.1035-75_1035-67dup XP_011543833.1:n.1035-75_1035-67dup
XM_011545532.1:c.942-75_942-67dup XP_011543834.1:n.942-75_942-67dup
XM_017029574.2:c.921-75_921-67dup XP_016885063.1:n.921-75_921-67dup