Canonical Allele Identifier: CA2533482558

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355397del , CM000685.2:g.19355397del	GRCh38
NC_000023.10:g.19373515del , CM000685.1:g.19373515del	GRCh37
NC_000023.9:g.19283436del	NCBI36
NG_016781.1:g.16505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.673del	ENSP00000348062.6:p.Cys225ValfsTer?
ENST00000379805.4:c.*344del	ENSP00000369133.3:n.*344del
ENST00000417819.6:c.736del	ENSP00000404616.2:p.Cys246ValfsTer?
ENST00000423505.6:c.766del	ENSP00000406473.2:p.Cys256ValfsTer?
ENST00000481733.2:n.447del
ENST00000696704.1:c.467del	ENSP00000512823.1:p.Leu156CysfsTer?
ENST00000696705.1:c.*107del	ENSP00000512824.1:n.*107del
ENST00000422285.7:c.652del MANE Select	ENSP00000394382.2:p.Cys218ValfsTer?
ENST00000379806.9:c.766del	ENSP00000369134.5:p.Cys256ValfsTer?
ENST00000422285.6:c.652del	ENSP00000394382.2:p.Cys218ValfsTer?
ENST00000479146.1:n.487del
ENST00000481733.1:n.80del
ENST00000540249.5:c.559del	ENSP00000440761.1:p.Cys187ValfsTer?
ENST00000545074.5:c.673del	ENSP00000438550.1:p.Cys225ValfsTer?
NM_000284.3:c.652del	NP_000275.1:p.Cys218ValfsTer?
NM_001173454.1:c.766del	NP_001166925.1:p.Cys256ValfsTer?
NM_001173455.1:c.673del	NP_001166926.1:p.Cys225ValfsTer?
NM_001173456.1:c.559del	NP_001166927.1:p.Cys187ValfsTer?
XM_011545531.1:c.787del	XP_011543833.1:p.Cys263ValfsTer?
XM_011545532.1:c.694del	XP_011543834.1:p.Cys232ValfsTer?
XM_017029574.2:c.673del	XP_016885063.1:p.Cys225ValfsTer?
NM_000284.4:c.652del MANE Select	NP_000275.1:p.Cys218ValfsTer?
NM_001173454.2:c.766del	NP_001166925.1:p.Cys256ValfsTer?
NM_001173455.2:c.673del	NP_001166926.1:p.Cys225ValfsTer?
NM_001173456.2:c.559del	NP_001166927.1:p.Cys187ValfsTer?