Canonical Allele Identifier: CA2194550371

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325607_89325610delinsCCCG , CM000677.2:g.89325607_89325610delinsCCCG	GRCh38
NC_000015.9:g.89868838_89868841delinsCCCG , CM000677.1:g.89868838_89868841delinsCCCG	GRCh37
NC_000015.8:g.87669842_87669845delinsCCCG	NCBI36
NG_008218.1:g.14186_14189delinsCGGG
NG_008218.2:g.14186_14189delinsCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1789_1792delinsCGGG	ENSP00000516154.1:p.Arg597=
ENST00000268124.11:c.1789_1792delinsCGGG MANE Select	ENSP00000268124.5:p.Arg597=
ENST00000530292.3:c.1390_1393delinsCGGG	ENSP00000432885.2:p.Arg464=
ENST00000635986.2:c.1789_1792delinsCGGG	ENSP00000490653.2:p.Arg597=
ENST00000636774.1:c.*356_*359delinsCGGG	ENSP00000489799.1:n.*356_*359delinsCGGG
ENST00000637238.1:c.526_529delinsCGGG	ENSP00000490756.1:p.Arg176=
ENST00000637264.1:c.861_864delinsCGGG
ENST00000666746.1:c.1366_1369delinsCGGG
ENST00000670281.1:c.109_112delinsCGGG	ENSP00000499709.1:p.Arg37=
ENST00000672071.1:n.1987_1990delinsCGGG
ENST00000672923.2:n.1892_1895delinsCGGG
ENST00000268124.9:c.1789_1792delinsCGGG	ENSP00000268124.5:p.Arg597=
ENST00000442287.6:c.1789_1792delinsCGGG	ENSP00000399851.2:p.Arg597=
ENST00000526314.2:c.171_174delinsCGGG
ENST00000631044.2:c.*1172_*1175delinsCGGG	ENSP00000486730.1:n.*1172_*1175delinsCGGG
NM_001126131.1:c.1789_1792delinsCGGG	NP_001119603.1:p.Arg597=
NM_002693.2:c.1789_1792delinsCGGG	NP_002684.1:p.Arg597=
NM_001126131.2:c.1789_1792delinsCGGG	NP_001119603.1:p.Arg597=
NM_002693.3:c.1789_1792delinsCGGG MANE Select	NP_002684.1:p.Arg597=