Canonical Allele Identifier: CA716918317

Gene: POLG POLGARF

Linked Data

• dbSNP Id: rs1445968035
• gnomAD v3: 15-89333623-C-CTGG
• gnomAD v4: 15-89333623-C-CTGG
• MyVariant Identifiers: chr15:g.89876854_89876855insTGG (hg19) ; chr15:g.89333623_89333624insTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333625_89333626insGTG , CM000677.2:g.89333625_89333626insGTG	GRCh38
NC_000015.9:g.89876856_89876857insGTG , CM000677.1:g.89876856_89876857insGTG	GRCh37
NC_000015.8:g.87677860_87677861insGTG	NCBI36
NG_008218.1:g.6172_6173insCCA
NG_008218.2:g.6172_6173insCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.131_132insCCA (POLG)	ENSP00000516154.1:p.Gln43_Gln44insHis
ENST00000706918.1:c.186_187insCCA (POLGARF)	ENSP00000516626.1:p.Ala62_Ala63insPro
ENST00000268124.11:c.131_132insCCA (POLG) MANE Select	ENSP00000268124.5:p.Gln43_Gln44insHis
ENST00000635986.2:c.131_132insCCA (POLG)	ENSP00000490653.2:p.Gln43_Gln44insHis
ENST00000636774.1:c.131_132insCCA (POLG)	ENSP00000489799.1:p.Gln43_Gln44insHis
ENST00000650303.2:c.186_187insCCA (POLG)	ENSP00000497242.2:p.Ala62_Ala63insPro
ENST00000672071.1:n.329_330insCCA (POLG)
ENST00000268124.9:c.131_132insCCA (POLG)	ENSP00000268124.5:p.Gln43_Gln44insHis
ENST00000442287.6:c.131_132insCCA (POLG)	ENSP00000399851.2:p.Gln43_Gln44insHis
ENST00000631044.2:c.131_132insCCA (POLG)	ENSP00000486730.1:p.Gln43_Gln44insHis
NM_001126131.1:c.131_132insCCA (POLG)	NP_001119603.1:p.Gln43_Gln44insHis
NM_002693.2:c.131_132insCCA (POLG)	NP_002684.1:p.Gln43_Gln44insHis
NM_001126131.2:c.131_132insCCA (POLG)	NP_001119603.1:p.Gln43_Gln44insHis
NM_002693.3:c.131_132insCCA (POLG) MANE Select	NP_002684.1:p.Gln43_Gln44insHis