Canonical Allele Identifier: CA2739269689

Gene: POLG

Linked Data

• ClinVar Variation Id: 2786755
• ClinVar RCV Id: RCV003627020

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330201dup , CM000677.2:g.89330201dup	GRCh38
NC_000015.9:g.89873432dup , CM000677.1:g.89873432dup	GRCh37
NC_000015.8:g.87674436dup	NCBI36
NG_008218.1:g.9599dup
NG_008218.2:g.9599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.739dup	ENSP00000516154.1:p.Leu247ProfsTer28
ENST00000268124.11:c.739dup MANE Select	ENSP00000268124.5:p.Leu247ProfsTer28
ENST00000530292.3:c.340dup	ENSP00000432885.2:p.Leu114ProfsTer28
ENST00000635986.2:c.739dup	ENSP00000490653.2:p.Leu247ProfsTer28
ENST00000636774.1:c.739dup	ENSP00000489799.1:p.Leu247ProfsTer28
ENST00000666746.1:c.396dup
ENST00000672071.1:n.937dup
ENST00000268124.9:c.739dup	ENSP00000268124.5:p.Leu247ProfsTer28
ENST00000442287.6:c.739dup	ENSP00000399851.2:p.Leu247ProfsTer28
ENST00000631044.2:c.*122dup	ENSP00000486730.1:n.*122dup
NM_001126131.1:c.739dup	NP_001119603.1:p.Leu247ProfsTer28
NM_002693.2:c.739dup	NP_002684.1:p.Leu247ProfsTer28
NM_001126131.2:c.739dup	NP_001119603.1:p.Leu247ProfsTer28
NM_002693.3:c.739dup MANE Select	NP_002684.1:p.Leu247ProfsTer28