Canonical Allele Identifier: CA2575828471

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323502del , CM000677.2:g.89323502del	GRCh38
NC_000015.9:g.89866733del , CM000677.1:g.89866733del	GRCh37
NC_000015.8:g.87667737del	NCBI36
NG_008218.1:g.16295del
NG_008218.2:g.16295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2168del	ENSP00000516154.1:p.Gly723ValfsTer?
ENST00000268124.11:c.2168del MANE Select	ENSP00000268124.5:p.Gly723ValfsTer?
ENST00000530292.3:c.1769del	ENSP00000432885.2:p.Gly590ValfsTer?
ENST00000635986.2:c.2168del	ENSP00000490653.2:p.Gly723ValfsTer?
ENST00000636774.1:c.*735del	ENSP00000489799.1:n.*735del
ENST00000637238.1:c.865del	ENSP00000490756.1:n.865del
ENST00000637264.1:c.1240del
ENST00000666746.1:c.1745del
ENST00000670281.1:c.488del	ENSP00000499709.1:p.Gly163ValfsTer?
ENST00000672071.1:n.2366del
ENST00000672923.2:n.2271del
ENST00000268124.9:c.2168del	ENSP00000268124.5:p.Gly723ValfsTer?
ENST00000442287.6:c.2168del	ENSP00000399851.2:p.Gly723ValfsTer?
ENST00000526314.2:c.539+314del
ENST00000526398.1:c.317del
ENST00000532584.5:n.370del
ENST00000631044.2:c.*1592del	ENSP00000486730.1:n.*1592del
NM_001126131.1:c.2168del	NP_001119603.1:p.Gly723ValfsTer?
NM_002693.2:c.2168del	NP_002684.1:p.Gly723ValfsTer?
NM_001126131.2:c.2168del	NP_001119603.1:p.Gly723ValfsTer?
NM_002693.3:c.2168del MANE Select	NP_002684.1:p.Gly723ValfsTer?