Canonical Allele Identifier: CA2418224576

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063212203
• gnomAD v4: X-19357589-TTGCCGGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357592_19357599del , CM000685.2:g.19357592_19357599del	GRCh38
NC_000023.10:g.19375710_19375717del , CM000685.1:g.19375710_19375717del	GRCh37
NC_000023.9:g.19285631_19285638del	NCBI36
NG_016781.1:g.18700_18707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-60_853-53del	ENSP00000348062.6:n.853-60_853-53del
ENST00000379805.4:c.*524-60_*524-53del	ENSP00000369133.3:n.*524-60_*524-53del
ENST00000417819.6:c.916-60_916-53del	ENSP00000404616.2:n.916-60_916-53del
ENST00000423505.6:c.946-60_946-53del	ENSP00000406473.2:n.946-60_946-53del
ENST00000481733.2:n.627-60_627-53del
ENST00000696704.1:c.*164-60_*164-53del	ENSP00000512823.1:n.*164-60_*164-53del
ENST00000696705.1:c.*287-60_*287-53del	ENSP00000512824.1:n.*287-60_*287-53del
ENST00000422285.7:c.832-60_832-53del MANE Select	ENSP00000394382.2:n.832-60_832-53del
ENST00000379804.1:c.-12-60_-12-53del	ENSP00000369132.1:n.-12-60_-12-53del
ENST00000379806.9:c.946-60_946-53del	ENSP00000369134.5:n.946-60_946-53del
ENST00000422285.6:c.832-60_832-53del	ENSP00000394382.2:n.832-60_832-53del
ENST00000478795.1:n.211_218del
ENST00000481733.1:n.260-60_260-53del
ENST00000540249.5:c.739-60_739-53del	ENSP00000440761.1:n.739-60_739-53del
ENST00000545074.5:c.853-60_853-53del	ENSP00000438550.1:n.853-60_853-53del
NM_000284.3:c.832-60_832-53del	NP_000275.1:n.832-60_832-53del
NM_001173454.1:c.946-60_946-53del	NP_001166925.1:n.946-60_946-53del
NM_001173455.1:c.853-60_853-53del	NP_001166926.1:n.853-60_853-53del
NM_001173456.1:c.739-60_739-53del	NP_001166927.1:n.739-60_739-53del
XM_011545531.1:c.967-60_967-53del	XP_011543833.1:n.967-60_967-53del
XM_011545532.1:c.874-60_874-53del	XP_011543834.1:n.874-60_874-53del
XM_017029574.2:c.853-60_853-53del	XP_016885063.1:n.853-60_853-53del
NM_000284.4:c.832-60_832-53del MANE Select	NP_000275.1:n.832-60_832-53del
NM_001173454.2:c.946-60_946-53del	NP_001166925.1:n.946-60_946-53del
NM_001173455.2:c.853-60_853-53del	NP_001166926.1:n.853-60_853-53del
NM_001173456.2:c.739-60_739-53del	NP_001166927.1:n.739-60_739-53del