Canonical Allele Identifier: CA2579566225

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351365_19351366del , CM000685.2:g.19351365_19351366del	GRCh38
NC_000023.10:g.19369483_19369484del , CM000685.1:g.19369483_19369484del	GRCh37
NC_000023.9:g.19279404_19279405del	NCBI36
NG_016781.1:g.12473_12474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.397_398del	ENSP00000348062.6:p.Thr133ProfsTer21
ENST00000379805.4:c.376_377del	ENSP00000369133.3:p.Thr126ProfsTer21
ENST00000417819.6:c.460_461del	ENSP00000404616.2:p.Thr154ProfsTer21
ENST00000423505.6:c.490_491del	ENSP00000406473.2:p.Thr164ProfsTer21
ENST00000696704.1:c.376_377del	ENSP00000512823.1:p.Thr126ProfsTer?
ENST00000696705.1:c.376_377del	ENSP00000512824.1:p.Thr126ProfsTer23
ENST00000422285.7:c.376_377del MANE Select	ENSP00000394382.2:p.Thr126ProfsTer21
ENST00000355808.9:c.397_398del	ENSP00000348062.5:p.Thr133ProfsTer21
ENST00000379805.3:c.376_377del	ENSP00000369133.3:p.Thr126ProfsTer21
ENST00000379806.9:c.490_491del	ENSP00000369134.5:p.Thr164ProfsTer21
ENST00000422285.6:c.376_377del	ENSP00000394382.2:p.Thr126ProfsTer21
ENST00000423505.5:c.490_491del	ENSP00000406473.1:p.Thr164ProfsTer21
ENST00000492364.1:n.478_479del
ENST00000540249.5:c.376_377del	ENSP00000440761.1:p.Thr126ProfsTer21
ENST00000545074.5:c.397_398del	ENSP00000438550.1:p.Thr133ProfsTer21
NM_000284.3:c.376_377del	NP_000275.1:p.Thr126ProfsTer21
NM_001173454.1:c.490_491del	NP_001166925.1:p.Thr164ProfsTer21
NM_001173455.1:c.397_398del	NP_001166926.1:p.Thr133ProfsTer21
NM_001173456.1:c.376_377del	NP_001166927.1:p.Thr126ProfsTer21
XM_011545531.1:c.511_512del	XP_011543833.1:p.Thr171ProfsTer21
XM_011545532.1:c.511_512del	XP_011543834.1:p.Thr171ProfsTer21
XM_017029574.2:c.490_491del	XP_016885063.1:p.Thr164ProfsTer21
NM_000284.4:c.376_377del MANE Select	NP_000275.1:p.Thr126ProfsTer21
NM_001173454.2:c.490_491del	NP_001166925.1:p.Thr164ProfsTer21
NM_001173455.2:c.397_398del	NP_001166926.1:p.Thr133ProfsTer21
NM_001173456.2:c.376_377del	NP_001166927.1:p.Thr126ProfsTer21