Canonical Allele Identifier: CA2693250987

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357840-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357844_19357845del , CM000685.2:g.19357844_19357845del	GRCh38
NC_000023.10:g.19375962_19375963del , CM000685.1:g.19375962_19375963del	GRCh37
NC_000023.9:g.19285883_19285884del	NCBI36
NG_016781.1:g.18952_18953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+125_920+126del	ENSP00000348062.6:n.920+125_920+126del
ENST00000379805.4:c.*591+125_*591+126del	ENSP00000369133.3:n.*591+125_*591+126del
ENST00000417819.6:c.983+125_983+126del	ENSP00000404616.2:n.983+125_983+126del
ENST00000423505.6:c.1013+125_1013+126del	ENSP00000406473.2:n.1013+125_1013+126del
ENST00000481733.2:n.694+125_694+126del
ENST00000696704.1:c.*231+125_*231+126del	ENSP00000512823.1:n.*231+125_*231+126del
ENST00000696705.1:c.*354+125_*354+126del	ENSP00000512824.1:n.*354+125_*354+126del
ENST00000422285.7:c.899+125_899+126del MANE Select	ENSP00000394382.2:n.899+125_899+126del
ENST00000379804.1:c.56+125_56+126del	ENSP00000369132.1:n.56+125_56+126del
ENST00000379806.9:c.1013+125_1013+126del	ENSP00000369134.5:n.1013+125_1013+126del
ENST00000422285.6:c.899+125_899+126del	ENSP00000394382.2:n.899+125_899+126del
ENST00000478795.1:n.338+125_338+126del
ENST00000481733.1:n.327+125_327+126del
ENST00000540249.5:c.806+125_806+126del	ENSP00000440761.1:n.806+125_806+126del
ENST00000545074.5:c.920+125_920+126del	ENSP00000438550.1:n.920+125_920+126del
NM_000284.3:c.899+125_899+126del	NP_000275.1:n.899+125_899+126del
NM_001173454.1:c.1013+125_1013+126del	NP_001166925.1:n.1013+125_1013+126del
NM_001173455.1:c.920+125_920+126del	NP_001166926.1:n.920+125_920+126del
NM_001173456.1:c.806+125_806+126del	NP_001166927.1:n.806+125_806+126del
XM_011545531.1:c.1034+125_1034+126del	XP_011543833.1:n.1034+125_1034+126del
XM_011545532.1:c.941+125_941+126del	XP_011543834.1:n.941+125_941+126del
XM_017029574.2:c.920+125_920+126del	XP_016885063.1:n.920+125_920+126del
NM_000284.4:c.899+125_899+126del MANE Select	NP_000275.1:n.899+125_899+126del
NM_001173454.2:c.1013+125_1013+126del	NP_001166925.1:n.1013+125_1013+126del
NM_001173455.2:c.920+125_920+126del	NP_001166926.1:n.920+125_920+126del
NM_001173456.2:c.806+125_806+126del	NP_001166927.1:n.806+125_806+126del