Canonical Allele Identifier: CA2832566882

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325668dup , CM000677.2:g.89325668dup	GRCh38
NC_000015.9:g.89868899dup , CM000677.1:g.89868899dup	GRCh37
NC_000015.8:g.87669903dup	NCBI36
NG_008218.1:g.14132dup
NG_008218.2:g.14132dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1735dup	ENSP00000516154.1:p.Arg579ProfsTer23
ENST00000268124.11:c.1735dup MANE Select	ENSP00000268124.5:p.Arg579ProfsTer23
ENST00000530292.3:c.1336dup	ENSP00000432885.2:p.Arg446ProfsTer23
ENST00000635986.2:c.1735dup	ENSP00000490653.2:p.Arg579ProfsTer23
ENST00000636774.1:c.*302dup	ENSP00000489799.1:n.*302dup
ENST00000637238.1:c.472dup	ENSP00000490756.1:p.Arg158ProfsTer23
ENST00000637264.1:c.807dup
ENST00000666746.1:c.1312dup
ENST00000670281.1:c.55dup	ENSP00000499709.1:p.Arg19ProfsTer23
ENST00000672071.1:n.1933dup
ENST00000672923.2:n.1838dup
ENST00000268124.9:c.1735dup	ENSP00000268124.5:p.Arg579ProfsTer23
ENST00000442287.6:c.1735dup	ENSP00000399851.2:p.Arg579ProfsTer23
ENST00000526314.2:c.117dup
ENST00000631044.2:c.*1118dup	ENSP00000486730.1:n.*1118dup
NM_001126131.1:c.1735dup	NP_001119603.1:p.Arg579ProfsTer23
NM_002693.2:c.1735dup	NP_002684.1:p.Arg579ProfsTer23
NM_001126131.2:c.1735dup	NP_001119603.1:p.Arg579ProfsTer23
NM_002693.3:c.1735dup MANE Select	NP_002684.1:p.Arg579ProfsTer23