Canonical Allele Identifier: CA2194573150

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 2021706
• ClinVar RCV Id: RCV002847224
• dbSNP Id: rs751908240

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333590_89333595dup , CM000677.2:g.89333590_89333595dup	GRCh38
NC_000015.9:g.89876821_89876826dup , CM000677.1:g.89876821_89876826dup	GRCh37
NC_000015.8:g.87677825_87677830dup	NCBI36
NG_008218.1:g.6202_6207dup
NG_008218.2:g.6202_6207dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.161_166dup (POLG)	ENSP00000516154.1:p.Gln55_Pro56insGlnGln
ENST00000706918.1:c.216_221dup (POLGARF)	ENSP00000516626.1:p.Ala74_Ser75insAlaAla
ENST00000268124.11:c.161_166dup (POLG) MANE Select	ENSP00000268124.5:p.Gln55_Pro56insGlnGln
ENST00000635986.2:c.161_166dup (POLG)	ENSP00000490653.2:p.Gln55_Pro56insGlnGln
ENST00000636774.1:c.161_166dup (POLG)	ENSP00000489799.1:p.Gln55_Pro56insGlnGln
ENST00000650303.2:c.216_221dup (POLG)	ENSP00000497242.2:p.Ala74_Ser75insAlaAla
ENST00000672071.1:n.359_364dup (POLG)
ENST00000268124.9:c.161_166dup (POLG)	ENSP00000268124.5:p.Gln55_Pro56insGlnGln
ENST00000442287.6:c.161_166dup (POLG)	ENSP00000399851.2:p.Gln55_Pro56insGlnGln
ENST00000631044.2:c.161_166dup (POLG)	ENSP00000486730.1:p.Gln55_Pro56insGlnGln
NM_001126131.1:c.161_166dup (POLG)	NP_001119603.1:p.Gln55_Pro56insGlnGln
NM_002693.2:c.161_166dup (POLG)	NP_002684.1:p.Gln55_Pro56insGlnGln
NM_001126131.2:c.161_166dup (POLG)	NP_001119603.1:p.Gln55_Pro56insGlnGln
NM_002693.3:c.161_166dup (POLG) MANE Select	NP_002684.1:p.Gln55_Pro56insGlnGln