Canonical Allele Identifier: CA2579566223

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351330_19351334del , CM000685.2:g.19351330_19351334del	GRCh38
NC_000023.10:g.19369448_19369452del , CM000685.1:g.19369448_19369452del	GRCh37
NC_000023.9:g.19279369_19279373del	NCBI36
NG_016781.1:g.12438_12442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.362_366del	ENSP00000348062.6:p.Leu121HisfsTer?
ENST00000379805.4:c.341_345del	ENSP00000369133.3:p.Leu114HisfsTer?
ENST00000417819.6:c.425_429del	ENSP00000404616.2:p.Leu142HisfsTer?
ENST00000423505.6:c.455_459del	ENSP00000406473.2:p.Leu152HisfsTer?
ENST00000696704.1:c.341_345del	ENSP00000512823.1:p.Leu114HisfsTer?
ENST00000696705.1:c.341_345del	ENSP00000512824.1:p.Leu114HisfsTer?
ENST00000422285.7:c.341_345del MANE Select	ENSP00000394382.2:p.Leu114HisfsTer?
ENST00000355808.9:c.362_366del	ENSP00000348062.5:p.Leu121HisfsTer?
ENST00000379805.3:c.341_345del	ENSP00000369133.3:p.Leu114HisfsTer?
ENST00000379806.9:c.455_459del	ENSP00000369134.5:p.Leu152HisfsTer?
ENST00000422285.6:c.341_345del	ENSP00000394382.2:p.Leu114HisfsTer?
ENST00000423505.5:c.455_459del	ENSP00000406473.1:p.Leu152HisfsTer?
ENST00000492364.1:n.443_447del
ENST00000540249.5:c.341_345del	ENSP00000440761.1:p.Leu114HisfsTer?
ENST00000545074.5:c.362_366del	ENSP00000438550.1:p.Leu121HisfsTer?
NM_000284.3:c.341_345del	NP_000275.1:p.Leu114HisfsTer?
NM_001173454.1:c.455_459del	NP_001166925.1:p.Leu152HisfsTer?
NM_001173455.1:c.362_366del	NP_001166926.1:p.Leu121HisfsTer?
NM_001173456.1:c.341_345del	NP_001166927.1:p.Leu114HisfsTer?
XM_011545531.1:c.476_480del	XP_011543833.1:p.Leu159HisfsTer?
XM_011545532.1:c.476_480del	XP_011543834.1:p.Leu159HisfsTer?
XM_017029574.2:c.455_459del	XP_016885063.1:p.Leu152HisfsTer?
NM_000284.4:c.341_345del MANE Select	NP_000275.1:p.Leu114HisfsTer?
NM_001173454.2:c.455_459del	NP_001166925.1:p.Leu152HisfsTer?
NM_001173455.2:c.362_366del	NP_001166926.1:p.Leu121HisfsTer?
NM_001173456.2:c.341_345del	NP_001166927.1:p.Leu114HisfsTer?