Canonical Allele Identifier: CA2580612707
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

dbSNP Id: rs1567194472

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333623_89333624insCGCCGCCGCTGCCGC , CM000677.2:g.89333623_89333624insCGCCGCCGCTGCCGC GRCh38
NC_000015.9:g.89876854_89876855insCGCCGCCGCTGCCGC , CM000677.1:g.89876854_89876855insCGCCGCCGCTGCCGC GRCh37
NC_000015.8:g.87677858_87677859insCGCCGCCGCTGCCGC NCBI36
NG_008218.1:g.6174_6175insGGCAGCGGCGGCGGC
NG_008218.2:g.6174_6175insGGCAGCGGCGGCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.133_134insGGCAGCGGCGGCGGC (POLG) ENSP00000516154.1:p.Gln44_Gln45insArgGlnArgArgArg
ENST00000706918.1:c.188_189insGGCAGCGGCGGCGGC (POLGARF) ENSP00000516626.1:p.Ala63_Ala64insAlaAlaAlaAlaAla
ENST00000268124.11:c.133_134insGGCAGCGGCGGCGGC (POLG) MANE Select ENSP00000268124.5:p.Gln44_Gln45insArgGlnArgArgArg
ENST00000635986.2:c.133_134insGGCAGCGGCGGCGGC (POLG) ENSP00000490653.2:p.Gln44_Gln45insArgGlnArgArgArg
ENST00000636774.1:c.133_134insGGCAGCGGCGGCGGC (POLG) ENSP00000489799.1:p.Gln44_Gln45insArgGlnArgArgArg
ENST00000650303.2:c.188_189insGGCAGCGGCGGCGGC (POLG) ENSP00000497242.2:p.Ala63_Ala64insAlaAlaAlaAlaAla
ENST00000672071.1:n.331_332insGGCAGCGGCGGCGGC (POLG)
ENST00000268124.9:c.133_134insGGCAGCGGCGGCGGC (POLG) ENSP00000268124.5:p.Gln44_Gln45insArgGlnArgArgArg
ENST00000442287.6:c.133_134insGGCAGCGGCGGCGGC (POLG) ENSP00000399851.2:p.Gln44_Gln45insArgGlnArgArgArg
ENST00000631044.2:c.133_134insGGCAGCGGCGGCGGC (POLG) ENSP00000486730.1:p.Gln44_Gln45insArgGlnArgArgArg
NM_001126131.1:c.133_134insGGCAGCGGCGGCGGC (POLG) NP_001119603.1:p.Gln44_Gln45insArgGlnArgArgArg
NM_002693.2:c.133_134insGGCAGCGGCGGCGGC (POLG) NP_002684.1:p.Gln44_Gln45insArgGlnArgArgArg
NM_001126131.2:c.133_134insGGCAGCGGCGGCGGC (POLG) NP_001119603.1:p.Gln44_Gln45insArgGlnArgArgArg
NM_002693.3:c.133_134insGGCAGCGGCGGCGGC (POLG) MANE Select NP_002684.1:p.Gln44_Gln45insArgGlnArgArgArg