Canonical Allele Identifier: CA2693251056
Community Standard Title: NM_000284.4(PDHA1):c.900-66_900-65del
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358850_19358851del , CM000685.2:g.19358850_19358851del GRCh38
NC_000023.10:g.19376968_19376969del , CM000685.1:g.19376968_19376969del GRCh37
NC_000023.9:g.19286889_19286890del NCBI36
NG_016781.1:g.19958_19959del
NG_021184.1:g.161411_161412del

Transcript Alleles

HGVS Amino-acid Change
NM_000284.4:c.900-66_900-65del MANE Select NP_000275.1:n.900-66_900-65del
ENST00000422285.7:c.900-66_900-65del MANE Select ENSP00000394382.2:n.900-66_900-65del
NM_000284.3:c.900-66_900-65del NP_000275.1:n.900-66_900-65del
NM_001173454.1:c.1014-66_1014-65del NP_001166925.1:n.1014-66_1014-65del
NM_001173454.2:c.1014-66_1014-65del NP_001166925.1:n.1014-66_1014-65del
NM_001173455.1:c.921-66_921-65del NP_001166926.1:n.921-66_921-65del
NM_001173455.2:c.921-66_921-65del NP_001166926.1:n.921-66_921-65del
NM_001173456.1:c.807-66_807-65del NP_001166927.1:n.807-66_807-65del
NM_001173456.2:c.807-66_807-65del NP_001166927.1:n.807-66_807-65del
ENST00000355808.10:c.921-66_921-65del ENSP00000348062.6:n.921-66_921-65del
ENST00000379804.1:c.57-66_57-65del ENSP00000369132.1:n.57-66_57-65del
ENST00000379805.4:c.*592-66_*592-65del ENSP00000369133.3:n.*592-66_*592-65del
ENST00000379806.9:c.1014-66_1014-65del ENSP00000369134.5:n.1014-66_1014-65del
ENST00000417819.6:c.984-66_984-65del ENSP00000404616.2:n.984-66_984-65del
ENST00000422285.6:c.900-66_900-65del ENSP00000394382.2:n.900-66_900-65del
ENST00000423505.6:c.1014-66_1014-65del ENSP00000406473.2:n.1014-66_1014-65del
ENST00000478795.1:n.339-66_339-65del
ENST00000481733.1:n.328-66_328-65del
ENST00000481733.2:n.695-66_695-65del
ENST00000540249.5:c.807-66_807-65del ENSP00000440761.1:n.807-66_807-65del
ENST00000545074.5:c.921-66_921-65del ENSP00000438550.1:n.921-66_921-65del
ENST00000696704.1:c.*232-66_*232-65del ENSP00000512823.1:n.*232-66_*232-65del
ENST00000696705.1:c.*355-66_*355-65del ENSP00000512824.1:n.*355-66_*355-65del
XM_011545531.1:c.1035-66_1035-65del XP_011543833.1:n.1035-66_1035-65del
XM_011545532.1:c.942-66_942-65del XP_011543834.1:n.942-66_942-65del
XM_017029574.2:c.921-66_921-65del XP_016885063.1:n.921-66_921-65del