Canonical Allele Identifier: CA2194573515
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333618_89333630delinsTGCTGCTGCTGCC , CM000677.2:g.89333618_89333630delinsTGCTGCTGCTGCC GRCh38
NC_000015.9:g.89876849_89876861delinsTGCTGCTGCTGCC , CM000677.1:g.89876849_89876861delinsTGCTGCTGCTGCC GRCh37
NC_000015.8:g.87677853_87677865delinsTGCTGCTGCTGCC NCBI36
NG_008218.1:g.6166_6178delinsGGCAGCAGCAGCA
NG_008218.2:g.6166_6178delinsGGCAGCAGCAGCA

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.125_137delinsGGCAGCAGCAGCA (POLG) ENSP00000516154.1:p.Arg42=
ENST00000706918.1:c.180_192delinsGGCAGCAGCAGCA (POLGARF) ENSP00000516626.1:p.Ala60=
ENST00000268124.11:c.125_137delinsGGCAGCAGCAGCA (POLG) MANE Select ENSP00000268124.5:p.Arg42=
ENST00000635986.2:c.125_137delinsGGCAGCAGCAGCA (POLG) ENSP00000490653.2:p.Arg42=
ENST00000636774.1:c.125_137delinsGGCAGCAGCAGCA (POLG) ENSP00000489799.1:p.Arg42=
ENST00000650303.2:c.180_192delinsGGCAGCAGCAGCA (POLG) ENSP00000497242.2:p.Ala60=
ENST00000672071.1:n.323_335delinsGGCAGCAGCAGCA (POLG)
ENST00000268124.9:c.125_137delinsGGCAGCAGCAGCA (POLG) ENSP00000268124.5:p.Arg42=
ENST00000442287.6:c.125_137delinsGGCAGCAGCAGCA (POLG) ENSP00000399851.2:p.Arg42=
ENST00000631044.2:c.125_137delinsGGCAGCAGCAGCA (POLG) ENSP00000486730.1:p.Arg42=
NM_001126131.1:c.125_137delinsGGCAGCAGCAGCA (POLG) NP_001119603.1:p.Arg42=
NM_002693.2:c.125_137delinsGGCAGCAGCAGCA (POLG) NP_002684.1:p.Arg42=
NM_001126131.2:c.125_137delinsGGCAGCAGCAGCA (POLG) NP_001119603.1:p.Arg42=
NM_002693.3:c.125_137delinsGGCAGCAGCAGCA (POLG) MANE Select NP_002684.1:p.Arg42=