Canonical Allele Identifier: CA2418225249
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358993_19358996delinsACAG , CM000685.2:g.19358993_19358996delinsACAG GRCh38
NC_000023.10:g.19377111_19377114delinsACAG , CM000685.1:g.19377111_19377114delinsACAG GRCh37
NC_000023.9:g.19287032_19287035delinsACAG NCBI36
NG_016781.1:g.20101_20104delinsACAG
NG_021184.1:g.161266_161269delinsCTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.998_1001delinsACAG ENSP00000348062.6:p.Asn333=
ENST00000379805.4:c.*669_*672delinsACAG ENSP00000369133.3:n.*669_*672delinsACAG
ENST00000417819.6:c.1061_1064delinsACAG ENSP00000404616.2:p.Asn354=
ENST00000423505.6:c.1091_1094delinsACAG ENSP00000406473.2:p.Asn364=
ENST00000481733.2:n.772_775delinsACAG
ENST00000696704.1:c.*309_*312delinsACAG ENSP00000512823.1:n.*309_*312delinsACAG
ENST00000696705.1:c.*432_*435delinsACAG ENSP00000512824.1:n.*432_*435delinsACAG
ENST00000422285.7:c.977_980delinsACAG MANE Select ENSP00000394382.2:p.Asn326=
ENST00000379804.1:c.134_137delinsACAG ENSP00000369132.1:p.Asn45=
ENST00000379806.9:c.1091_1094delinsACAG ENSP00000369134.5:p.Asn364=
ENST00000422285.6:c.977_980delinsACAG ENSP00000394382.2:p.Asn326=
ENST00000478795.1:n.416_419delinsACAG
ENST00000481733.1:n.405_408delinsACAG
ENST00000540249.5:c.884_887delinsACAG ENSP00000440761.1:p.Asn295=
ENST00000545074.5:c.998_1001delinsACAG ENSP00000438550.1:p.Asn333=
NM_000284.3:c.977_980delinsACAG NP_000275.1:p.Asn326=
NM_001173454.1:c.1091_1094delinsACAG NP_001166925.1:p.Asn364=
NM_001173455.1:c.998_1001delinsACAG NP_001166926.1:p.Asn333=
NM_001173456.1:c.884_887delinsACAG NP_001166927.1:p.Asn295=
XM_011545531.1:c.1112_1115delinsACAG XP_011543833.1:p.Asn371=
XM_011545532.1:c.1019_1022delinsACAG XP_011543834.1:p.Asn340=
XM_017029574.2:c.998_1001delinsACAG XP_016885063.1:p.Asn333=
NM_000284.4:c.977_980delinsACAG MANE Select NP_000275.1:p.Asn326=
NM_001173454.2:c.1091_1094delinsACAG NP_001166925.1:p.Asn364=
NM_001173455.2:c.998_1001delinsACAG NP_001166926.1:p.Asn333=
NM_001173456.2:c.884_887delinsACAG NP_001166927.1:p.Asn295=