Canonical Allele Identifier: CA2580100428

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2052118
• ClinVar RCV Id: RCV002932488

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351324_19351338del , CM000685.2:g.19351324_19351338del	GRCh38
NC_000023.10:g.19369442_19369456del , CM000685.1:g.19369442_19369456del	GRCh37
NC_000023.9:g.19279363_19279377del	NCBI36
NG_016781.1:g.12432_12446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.356_370del	ENSP00000348062.6:p.Asp119_Thr123del
ENST00000379805.4:c.335_349del	ENSP00000369133.3:p.Asp112_Thr116del
ENST00000417819.6:c.419_433del	ENSP00000404616.2:p.Asp140_Thr144del
ENST00000423505.6:c.449_463del	ENSP00000406473.2:p.Asp150_Thr154del
ENST00000696704.1:c.335_349del	ENSP00000512823.1:p.Asp112_Thr116del
ENST00000696705.1:c.335_349del	ENSP00000512824.1:p.Asp112_Thr116del
ENST00000422285.7:c.335_349del MANE Select	ENSP00000394382.2:p.Asp112_Thr116del
ENST00000355808.9:c.356_370del	ENSP00000348062.5:p.Asp119_Thr123del
ENST00000379805.3:c.335_349del	ENSP00000369133.3:p.Asp112_Thr116del
ENST00000379806.9:c.449_463del	ENSP00000369134.5:p.Asp150_Thr154del
ENST00000422285.6:c.335_349del	ENSP00000394382.2:p.Asp112_Thr116del
ENST00000423505.5:c.449_463del	ENSP00000406473.1:p.Asp150_Thr154del
ENST00000492364.1:n.437_451del
ENST00000540249.5:c.335_349del	ENSP00000440761.1:p.Asp112_Thr116del
ENST00000545074.5:c.356_370del	ENSP00000438550.1:p.Asp119_Thr123del
NM_000284.3:c.335_349del	NP_000275.1:p.Asp112_Thr116del
NM_001173454.1:c.449_463del	NP_001166925.1:p.Asp150_Thr154del
NM_001173455.1:c.356_370del	NP_001166926.1:p.Asp119_Thr123del
NM_001173456.1:c.335_349del	NP_001166927.1:p.Asp112_Thr116del
XM_011545531.1:c.470_484del	XP_011543833.1:p.Asp157_Thr161del
XM_011545532.1:c.470_484del	XP_011543834.1:p.Asp157_Thr161del
XM_017029574.2:c.449_463del	XP_016885063.1:p.Asp150_Thr154del
NM_000284.4:c.335_349del MANE Select	NP_000275.1:p.Asp112_Thr116del
NM_001173454.2:c.449_463del	NP_001166925.1:p.Asp150_Thr154del
NM_001173455.2:c.356_370del	NP_001166926.1:p.Asp119_Thr123del
NM_001173456.2:c.335_349del	NP_001166927.1:p.Asp112_Thr116del