Canonical Allele Identifier: CA2695231663
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359015_19359034del , CM000685.2:g.19359015_19359034del GRCh38
NC_000023.10:g.19377133_19377152del , CM000685.1:g.19377133_19377152del GRCh37
NC_000023.9:g.19287054_19287073del NCBI36
NG_016781.1:g.20123_20142del
NG_021184.1:g.161228_161247del

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.1020_1029+10del
ENST00000379805.4:c.*691_*700+10del
ENST00000417819.6:c.1083_1092+10del
ENST00000423505.6:c.1113_1122+10del
ENST00000481733.2:n.794_803+10del
ENST00000696704.1:c.*331_*340+10del
ENST00000696705.1:c.*454_*463+10del
ENST00000422285.7:c.999_1008+10del
ENST00000379804.1:c.156_165+10del
ENST00000379806.9:c.1113_1122+10del
ENST00000422285.6:c.999_1008+10del
ENST00000478795.1:n.438_447+10del
ENST00000540249.5:c.906_915+10del
ENST00000545074.5:c.1020_1029+10del
NM_000284.3:c.999_1008+10del
NM_001173454.1:c.1113_1122+10del
NM_001173455.1:c.1020_1029+10del
NM_001173456.1:c.906_915+10del
XM_011545531.1:c.1134_1143+10del
XM_011545532.1:c.1041_1050+10del
XM_017029574.2:c.1020_1029+10del
NM_000284.4:c.999_1008+10del
NM_001173454.2:c.1113_1122+10del
NM_001173455.2:c.1020_1029+10del
NM_001173456.2:c.906_915+10del