Canonical Allele Identifier: CA2418224735

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357956_19357966delinsTATATACCTTA , CM000685.2:g.19357956_19357966delinsTATATACCTTA	GRCh38
NC_000023.10:g.19376074_19376084delinsTATATACCTTA , CM000685.1:g.19376074_19376084delinsTATATACCTTA	GRCh37
NC_000023.9:g.19285995_19286005delinsTATATACCTTA	NCBI36
NG_016781.1:g.19064_19074delinsTATATACCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+237_920+247delinsTATATACCTTA	ENSP00000348062.6:n.920+237_920+247delinsTATATACCTTA
ENST00000379805.4:c.*591+237_*591+247delinsTATATACCTTA	ENSP00000369133.3:n.*591+237_*591+247delinsTATATACCTTA
ENST00000417819.6:c.983+237_983+247delinsTATATACCTTA	ENSP00000404616.2:n.983+237_983+247delinsTATATACCTTA
ENST00000423505.6:c.1013+237_1013+247delinsTATATACCTTA	ENSP00000406473.2:n.1013+237_1013+247delinsTATATACCTTA
ENST00000481733.2:n.694+237_694+247delinsTATATACCTTA
ENST00000696704.1:c.*231+237_*231+247delinsTATATACCTTA	ENSP00000512823.1:n.*231+237_*231+247delinsTATATACCTTA
ENST00000696705.1:c.*354+237_*354+247delinsTATATACCTTA	ENSP00000512824.1:n.*354+237_*354+247delinsTATATACCTTA
ENST00000422285.7:c.899+237_899+247delinsTATATACCTTA MANE Select	ENSP00000394382.2:n.899+237_899+247delinsTATATACCTTA
ENST00000379804.1:c.56+237_56+247delinsTATATACCTTA	ENSP00000369132.1:n.56+237_56+247delinsTATATACCTTA
ENST00000379806.9:c.1013+237_1013+247delinsTATATACCTTA	ENSP00000369134.5:n.1013+237_1013+247delinsTATATACCTTA
ENST00000422285.6:c.899+237_899+247delinsTATATACCTTA	ENSP00000394382.2:n.899+237_899+247delinsTATATACCTTA
ENST00000478795.1:n.338+237_338+247delinsTATATACCTTA
ENST00000481733.1:n.327+237_327+247delinsTATATACCTTA
ENST00000540249.5:c.806+237_806+247delinsTATATACCTTA	ENSP00000440761.1:n.806+237_806+247delinsTATATACCTTA
ENST00000545074.5:c.920+237_920+247delinsTATATACCTTA	ENSP00000438550.1:n.920+237_920+247delinsTATATACCTTA
NM_000284.3:c.899+237_899+247delinsTATATACCTTA	NP_000275.1:n.899+237_899+247delinsTATATACCTTA
NM_001173454.1:c.1013+237_1013+247delinsTATATACCTTA	NP_001166925.1:n.1013+237_1013+247delinsTATATACCTTA
NM_001173455.1:c.920+237_920+247delinsTATATACCTTA	NP_001166926.1:n.920+237_920+247delinsTATATACCTTA
NM_001173456.1:c.806+237_806+247delinsTATATACCTTA	NP_001166927.1:n.806+237_806+247delinsTATATACCTTA
XM_011545531.1:c.1034+237_1034+247delinsTATATACCTTA	XP_011543833.1:n.1034+237_1034+247delinsTATATACCTTA
XM_011545532.1:c.941+237_941+247delinsTATATACCTTA	XP_011543834.1:n.941+237_941+247delinsTATATACCTTA
XM_017029574.2:c.920+237_920+247delinsTATATACCTTA	XP_016885063.1:n.920+237_920+247delinsTATATACCTTA
NM_000284.4:c.899+237_899+247delinsTATATACCTTA MANE Select	NP_000275.1:n.899+237_899+247delinsTATATACCTTA
NM_001173454.2:c.1013+237_1013+247delinsTATATACCTTA	NP_001166925.1:n.1013+237_1013+247delinsTATATACCTTA
NM_001173455.2:c.920+237_920+247delinsTATATACCTTA	NP_001166926.1:n.920+237_920+247delinsTATATACCTTA
NM_001173456.2:c.806+237_806+247delinsTATATACCTTA	NP_001166927.1:n.806+237_806+247delinsTATATACCTTA