Canonical Allele Identifier: CA2194573451

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 1008478
• ClinVar RCV Id: RCV001305824 ; RCV001576924
• dbSNP Id: rs2055627759

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333616_89333617insGTGCTG , CM000677.2:g.89333616_89333617insGTGCTG	GRCh38
NC_000015.9:g.89876847_89876848insGTGCTG , CM000677.1:g.89876847_89876848insGTGCTG	GRCh37
NC_000015.8:g.87677851_87677852insGTGCTG	NCBI36
NG_008218.1:g.6184_6185insCCAGCA
NG_008218.2:g.6184_6185insCCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.143_144insCCAGCA (POLG)	ENSP00000516154.1:p.Gln47_Gln48insHisGln
ENST00000706918.1:c.198_199insCCAGCA (POLGARF)	ENSP00000516626.1:p.Ala66_Ala67insProAla
ENST00000268124.11:c.143_144insCCAGCA (POLG) MANE Select	ENSP00000268124.5:p.Gln47_Gln48insHisGln
ENST00000635986.2:c.143_144insCCAGCA (POLG)	ENSP00000490653.2:p.Gln47_Gln48insHisGln
ENST00000636774.1:c.143_144insCCAGCA (POLG)	ENSP00000489799.1:p.Gln47_Gln48insHisGln
ENST00000650303.2:c.198_199insCCAGCA (POLG)	ENSP00000497242.2:p.Ala66_Ala67insProAla
ENST00000672071.1:n.341_342insCCAGCA (POLG)
ENST00000268124.9:c.143_144insCCAGCA (POLG)	ENSP00000268124.5:p.Gln47_Gln48insHisGln
ENST00000442287.6:c.143_144insCCAGCA (POLG)	ENSP00000399851.2:p.Gln47_Gln48insHisGln
ENST00000631044.2:c.143_144insCCAGCA (POLG)	ENSP00000486730.1:p.Gln47_Gln48insHisGln
NM_001126131.1:c.143_144insCCAGCA (POLG)	NP_001119603.1:p.Gln47_Gln48insHisGln
NM_002693.2:c.143_144insCCAGCA (POLG)	NP_002684.1:p.Gln47_Gln48insHisGln
NM_001126131.2:c.143_144insCCAGCA (POLG)	NP_001119603.1:p.Gln47_Gln48insHisGln
NM_002693.3:c.143_144insCCAGCA (POLG) MANE Select	NP_002684.1:p.Gln47_Gln48insHisGln