Canonical Allele Identifier: CA913184032
Gene: PDHA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359737_19359738del , CM000685.2:g.19359737_19359738del GRCh38
NC_000023.10:g.19377855_19377856del , CM000685.1:g.19377855_19377856del GRCh37
NC_000023.9:g.19287776_19287777del NCBI36
NG_016781.1:g.20845_20846del
NG_021184.1:g.160524_160525del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.*84_*85del ENSP00000348062.6:n.*84_*85del
ENST00000379805.4:c.*949_*950del ENSP00000369133.3:n.*949_*950del
ENST00000417819.6:c.*84_*85del ENSP00000404616.2:n.*84_*85del
ENST00000423505.6:c.*84_*85del ENSP00000406473.2:n.*84_*85del
ENST00000481733.2:n.1052_1053del
ENST00000696704.1:c.*589_*590del ENSP00000512823.1:n.*589_*590del
ENST00000696705.1:c.*712_*713del ENSP00000512824.1:n.*712_*713del
ENST00000422285.7:c.*84_*85del MANE Select ENSP00000394382.2:n.*84_*85del
ENST00000379804.1:c.*84_*85del ENSP00000369132.1:n.*84_*85del
ENST00000379806.9:c.*84_*85del ENSP00000369134.5:n.*84_*85del
ENST00000422285.6:c.*84_*85del ENSP00000394382.2:n.*84_*85del
ENST00000478795.1:n.696_697del
ENST00000540249.5:c.*84_*85del ENSP00000440761.1:n.*84_*85del
ENST00000545074.5:c.*84_*85del ENSP00000438550.1:n.*84_*85del
NM_000284.3:c.*84_*85del NP_000275.1:n.*84_*85del
NM_001173454.1:c.*84_*85del NP_001166925.1:n.*84_*85del
NM_001173455.1:c.*84_*85del NP_001166926.1:n.*84_*85del
NM_001173456.1:c.*84_*85del NP_001166927.1:n.*84_*85del
XM_011545531.1:c.*84_*85del XP_011543833.1:n.*84_*85del
XM_011545532.1:c.*84_*85del XP_011543834.1:n.*84_*85del
XM_017029574.2:c.*84_*85del XP_016885063.1:n.*84_*85del
NM_000284.4:c.*84_*85del MANE Select NP_000275.1:n.*84_*85del
NM_001173454.2:c.*84_*85del NP_001166925.1:n.*84_*85del
NM_001173455.2:c.*84_*85del NP_001166926.1:n.*84_*85del
NM_001173456.2:c.*84_*85del NP_001166927.1:n.*84_*85del