Canonical Allele Identifier: CA2580612706
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

dbSNP Id: rs2141816159

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333626_89333627insCGCCGCCGCTGCTGC , CM000677.2:g.89333626_89333627insCGCCGCCGCTGCTGC GRCh38
NC_000015.9:g.89876857_89876858insCGCCGCCGCTGCTGC , CM000677.1:g.89876857_89876858insCGCCGCCGCTGCTGC GRCh37
NC_000015.8:g.87677861_87677862insCGCCGCCGCTGCTGC NCBI36
NG_008218.1:g.6177_6178insGGCGGCGGCAGCAGC
NG_008218.2:g.6177_6178insGGCGGCGGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.136_137insGGCGGCGGCAGCAGC (POLG) ENSP00000516154.1:p.Gln45_Gln46insArgArgArgGlnGln
ENST00000706918.1:c.191_192insGGCGGCGGCAGCAGC (POLGARF) ENSP00000516626.1:p.Ala64_Ala65insAlaAlaAlaAlaAla
ENST00000268124.11:c.136_137insGGCGGCGGCAGCAGC (POLG) MANE Select ENSP00000268124.5:p.Gln45_Gln46insArgArgArgGlnGln
ENST00000635986.2:c.136_137insGGCGGCGGCAGCAGC (POLG) ENSP00000490653.2:p.Gln45_Gln46insArgArgArgGlnGln
ENST00000636774.1:c.136_137insGGCGGCGGCAGCAGC (POLG) ENSP00000489799.1:p.Gln45_Gln46insArgArgArgGlnGln
ENST00000650303.2:c.191_192insGGCGGCGGCAGCAGC (POLG) ENSP00000497242.2:p.Ala64_Ala65insAlaAlaAlaAlaAla
ENST00000672071.1:n.334_335insGGCGGCGGCAGCAGC (POLG)
ENST00000268124.9:c.136_137insGGCGGCGGCAGCAGC (POLG) ENSP00000268124.5:p.Gln45_Gln46insArgArgArgGlnGln
ENST00000442287.6:c.136_137insGGCGGCGGCAGCAGC (POLG) ENSP00000399851.2:p.Gln45_Gln46insArgArgArgGlnGln
ENST00000631044.2:c.136_137insGGCGGCGGCAGCAGC (POLG) ENSP00000486730.1:p.Gln45_Gln46insArgArgArgGlnGln
NM_001126131.1:c.136_137insGGCGGCGGCAGCAGC (POLG) NP_001119603.1:p.Gln45_Gln46insArgArgArgGlnGln
NM_002693.2:c.136_137insGGCGGCGGCAGCAGC (POLG) NP_002684.1:p.Gln45_Gln46insArgArgArgGlnGln
NM_001126131.2:c.136_137insGGCGGCGGCAGCAGC (POLG) NP_001119603.1:p.Gln45_Gln46insArgArgArgGlnGln
NM_002693.3:c.136_137insGGCGGCGGCAGCAGC (POLG) MANE Select NP_002684.1:p.Gln45_Gln46insArgArgArgGlnGln