Canonical Allele Identifier: CA2418224701

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063214846

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357896_19357897insT , CM000685.2:g.19357896_19357897insT	GRCh38
NC_000023.10:g.19376014_19376015insT , CM000685.1:g.19376014_19376015insT	GRCh37
NC_000023.9:g.19285935_19285936insT	NCBI36
NG_016781.1:g.19004_19005insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+177_920+178insT	ENSP00000348062.6:n.920+177_920+178insT
ENST00000379805.4:c.*591+177_*591+178insT	ENSP00000369133.3:n.*591+177_*591+178insT
ENST00000417819.6:c.983+177_983+178insT	ENSP00000404616.2:n.983+177_983+178insT
ENST00000423505.6:c.1013+177_1013+178insT	ENSP00000406473.2:n.1013+177_1013+178insT
ENST00000481733.2:n.694+177_694+178insT
ENST00000696704.1:c.*231+177_*231+178insT	ENSP00000512823.1:n.*231+177_*231+178insT
ENST00000696705.1:c.*354+177_*354+178insT	ENSP00000512824.1:n.*354+177_*354+178insT
ENST00000422285.7:c.899+177_899+178insT MANE Select	ENSP00000394382.2:n.899+177_899+178insT
ENST00000379804.1:c.56+177_56+178insT	ENSP00000369132.1:n.56+177_56+178insT
ENST00000379806.9:c.1013+177_1013+178insT	ENSP00000369134.5:n.1013+177_1013+178insT
ENST00000422285.6:c.899+177_899+178insT	ENSP00000394382.2:n.899+177_899+178insT
ENST00000478795.1:n.338+177_338+178insT
ENST00000481733.1:n.327+177_327+178insT
ENST00000540249.5:c.806+177_806+178insT	ENSP00000440761.1:n.806+177_806+178insT
ENST00000545074.5:c.920+177_920+178insT	ENSP00000438550.1:n.920+177_920+178insT
NM_000284.3:c.899+177_899+178insT	NP_000275.1:n.899+177_899+178insT
NM_001173454.1:c.1013+177_1013+178insT	NP_001166925.1:n.1013+177_1013+178insT
NM_001173455.1:c.920+177_920+178insT	NP_001166926.1:n.920+177_920+178insT
NM_001173456.1:c.806+177_806+178insT	NP_001166927.1:n.806+177_806+178insT
XM_011545531.1:c.1034+177_1034+178insT	XP_011543833.1:n.1034+177_1034+178insT
XM_011545532.1:c.941+177_941+178insT	XP_011543834.1:n.941+177_941+178insT
XM_017029574.2:c.920+177_920+178insT	XP_016885063.1:n.920+177_920+178insT
NM_000284.4:c.899+177_899+178insT MANE Select	NP_000275.1:n.899+177_899+178insT
NM_001173454.2:c.1013+177_1013+178insT	NP_001166925.1:n.1013+177_1013+178insT
NM_001173455.2:c.920+177_920+178insT	NP_001166926.1:n.920+177_920+178insT
NM_001173456.2:c.806+177_806+178insT	NP_001166927.1:n.806+177_806+178insT