Canonical Allele Identifier: CA2693250105

Gene: PDHA1

Linked Data

• gnomAD v4: X-19353085-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353089del , CM000685.2:g.19353089del	GRCh38
NC_000023.10:g.19371207del , CM000685.1:g.19371207del	GRCh37
NC_000023.9:g.19281128del	NCBI36
NG_016781.1:g.14197del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.447del	ENSP00000348062.6:p.Gly150GlufsTer?
ENST00000379805.4:c.426del	ENSP00000369133.3:p.Gly143GlufsTer29
ENST00000417819.6:c.510del	ENSP00000404616.2:p.Gly171GlufsTer?
ENST00000423505.6:c.540del	ENSP00000406473.2:p.Gly181GlufsTer?
ENST00000696704.1:c.418+1682del	ENSP00000512823.1:n.418+1682del
ENST00000696705.1:c.419-1402del	ENSP00000512824.1:n.419-1402del
ENST00000422285.7:c.426del MANE Select	ENSP00000394382.2:p.Gly143GlufsTer?
ENST00000355808.9:c.447del	ENSP00000348062.5:p.Gly150GlufsTer?
ENST00000379805.3:c.426del	ENSP00000369133.3:p.Gly143GlufsTer29
ENST00000379806.9:c.540del	ENSP00000369134.5:p.Gly181GlufsTer?
ENST00000422285.6:c.426del	ENSP00000394382.2:p.Gly143GlufsTer?
ENST00000423505.5:c.540del	ENSP00000406473.1:p.Gly181GlufsTer?
ENST00000479146.1:n.261del
ENST00000540249.5:c.426del	ENSP00000440761.1:p.Gly143GlufsTer?
ENST00000545074.5:c.447del	ENSP00000438550.1:p.Gly150GlufsTer?
NM_000284.3:c.426del	NP_000275.1:p.Gly143GlufsTer?
NM_001173454.1:c.540del	NP_001166925.1:p.Gly181GlufsTer?
NM_001173455.1:c.447del	NP_001166926.1:p.Gly150GlufsTer?
NM_001173456.1:c.426del	NP_001166927.1:p.Gly143GlufsTer?
XM_011545531.1:c.561del	XP_011543833.1:p.Gly188GlufsTer?
XM_011545532.1:c.561del	XP_011543834.1:p.Gly188GlufsTer?
XM_017029574.2:c.540del	XP_016885063.1:p.Gly181GlufsTer?
NM_000284.4:c.426del MANE Select	NP_000275.1:p.Gly143GlufsTer?
NM_001173454.2:c.540del	NP_001166925.1:p.Gly181GlufsTer?
NM_001173455.2:c.447del	NP_001166926.1:p.Gly150GlufsTer?
NM_001173456.2:c.426del	NP_001166927.1:p.Gly143GlufsTer?