Canonical Allele Identifier: CA1131433700

Gene: PDHA1

Linked Data

• gnomAD v3: X-19358029-TAGC-T
• gnomAD v4: X-19358029-TAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358030_19358032del , CM000685.2:g.19358030_19358032del	GRCh38
NC_000023.10:g.19376148_19376150del , CM000685.1:g.19376148_19376150del	GRCh37
NC_000023.9:g.19286069_19286071del	NCBI36
NG_016781.1:g.19138_19140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+311_920+313del	ENSP00000348062.6:n.920+311_920+313del
ENST00000379805.4:c.*591+311_*591+313del	ENSP00000369133.3:n.*591+311_*591+313del
ENST00000417819.6:c.983+311_983+313del	ENSP00000404616.2:n.983+311_983+313del
ENST00000423505.6:c.1013+311_1013+313del	ENSP00000406473.2:n.1013+311_1013+313del
ENST00000481733.2:n.694+311_694+313del
ENST00000696704.1:c.*231+311_*231+313del	ENSP00000512823.1:n.*231+311_*231+313del
ENST00000696705.1:c.*354+311_*354+313del	ENSP00000512824.1:n.*354+311_*354+313del
ENST00000422285.7:c.899+311_899+313del MANE Select	ENSP00000394382.2:n.899+311_899+313del
ENST00000379804.1:c.56+311_56+313del	ENSP00000369132.1:n.56+311_56+313del
ENST00000379806.9:c.1013+311_1013+313del	ENSP00000369134.5:n.1013+311_1013+313del
ENST00000422285.6:c.899+311_899+313del	ENSP00000394382.2:n.899+311_899+313del
ENST00000478795.1:n.338+311_338+313del
ENST00000481733.1:n.327+311_327+313del
ENST00000540249.5:c.806+311_806+313del	ENSP00000440761.1:n.806+311_806+313del
ENST00000545074.5:c.920+311_920+313del	ENSP00000438550.1:n.920+311_920+313del
NM_000284.3:c.899+311_899+313del	NP_000275.1:n.899+311_899+313del
NM_001173454.1:c.1013+311_1013+313del	NP_001166925.1:n.1013+311_1013+313del
NM_001173455.1:c.920+311_920+313del	NP_001166926.1:n.920+311_920+313del
NM_001173456.1:c.806+311_806+313del	NP_001166927.1:n.806+311_806+313del
XM_011545531.1:c.1034+311_1034+313del	XP_011543833.1:n.1034+311_1034+313del
XM_011545532.1:c.941+311_941+313del	XP_011543834.1:n.941+311_941+313del
XM_017029574.2:c.920+311_920+313del	XP_016885063.1:n.920+311_920+313del
NM_000284.4:c.899+311_899+313del MANE Select	NP_000275.1:n.899+311_899+313del
NM_001173454.2:c.1013+311_1013+313del	NP_001166925.1:n.1013+311_1013+313del
NM_001173455.2:c.920+311_920+313del	NP_001166926.1:n.920+311_920+313del
NM_001173456.2:c.806+311_806+313del	NP_001166927.1:n.806+311_806+313del