Canonical Allele Identifier: CA2740096761

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 2970694
• ClinVar RCV Id: RCV003824396

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333618_89333641dup , CM000677.2:g.89333618_89333641dup	GRCh38
NC_000015.9:g.89876849_89876872dup , CM000677.1:g.89876849_89876872dup	GRCh37
NC_000015.8:g.87677853_87677876dup	NCBI36
NG_008218.1:g.6160_6183dup
NG_008218.2:g.6160_6183dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.119_142dup (POLG)	ENSP00000516154.1:p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln
ENST00000706918.1:c.174_197dup (POLGARF)	ENSP00000516626.1:p.Ala66_Ala67insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000268124.11:c.119_142dup (POLG) MANE Select	ENSP00000268124.5:p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln
ENST00000635986.2:c.119_142dup (POLG)	ENSP00000490653.2:p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln
ENST00000636774.1:c.119_142dup (POLG)	ENSP00000489799.1:p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln
ENST00000650303.2:c.174_197dup (POLG)	ENSP00000497242.2:p.Ala66_Ala67insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000672071.1:n.317_340dup (POLG)
ENST00000268124.9:c.119_142dup (POLG)	ENSP00000268124.5:p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln
ENST00000442287.6:c.119_142dup (POLG)	ENSP00000399851.2:p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln
ENST00000631044.2:c.119_142dup (POLG)	ENSP00000486730.1:p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln
NM_001126131.1:c.119_142dup (POLG)	NP_001119603.1:p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln
NM_002693.2:c.119_142dup (POLG)	NP_002684.1:p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln
NM_001126131.2:c.119_142dup (POLG)	NP_001119603.1:p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln
NM_002693.3:c.119_142dup (POLG) MANE Select	NP_002684.1:p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln