Canonical Allele Identifier: CA2843564789

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326982dup , CM000677.2:g.89326982dup	GRCh38
NC_000015.9:g.89870213dup , CM000677.1:g.89870213dup	GRCh37
NC_000015.8:g.87671217dup	NCBI36
NG_008218.1:g.12815dup
NG_008218.2:g.12815dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1516dup	ENSP00000516154.1:p.Glu506GlyfsTer18
ENST00000268124.11:c.1516dup MANE Select	ENSP00000268124.5:p.Glu506GlyfsTer18
ENST00000530292.3:c.1117dup	ENSP00000432885.2:p.Glu373GlyfsTer18
ENST00000635986.2:c.1516dup	ENSP00000490653.2:p.Glu506GlyfsTer18
ENST00000636774.1:c.*83dup	ENSP00000489799.1:n.*83dup
ENST00000637238.1:c.253dup	ENSP00000490756.1:p.Glu85GlyfsTer18
ENST00000637264.1:c.588dup
ENST00000666746.1:c.1093dup
ENST00000672071.1:n.1714dup
ENST00000672923.2:n.1619dup
ENST00000268124.9:c.1516dup	ENSP00000268124.5:p.Glu506GlyfsTer18
ENST00000442287.6:c.1516dup	ENSP00000399851.2:p.Glu506GlyfsTer18
ENST00000631044.2:c.*899dup	ENSP00000486730.1:n.*899dup
NM_001126131.1:c.1516dup	NP_001119603.1:p.Glu506GlyfsTer18
NM_002693.2:c.1516dup	NP_002684.1:p.Glu506GlyfsTer18
NM_001126131.2:c.1516dup	NP_001119603.1:p.Glu506GlyfsTer18
NM_002693.3:c.1516dup MANE Select	NP_002684.1:p.Glu506GlyfsTer18