Canonical Allele Identifier: CA2194571665
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333207_89333208delinsTC , CM000677.2:g.89333207_89333208delinsTC GRCh38
NC_000015.9:g.89876438_89876439delinsTC , CM000677.1:g.89876438_89876439delinsTC GRCh37
NC_000015.8:g.87677442_87677443delinsTC NCBI36
NG_008218.1:g.6588_6589delinsGA
NG_008218.2:g.6588_6589delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.547_548delinsGA (POLG) ENSP00000516154.1:p.Glu183=
ENST00000706918.1:c.602_603delinsGA (POLGARF) ENSP00000516626.1:p.Gly201=
ENST00000268124.11:c.547_548delinsGA (POLG) MANE Select ENSP00000268124.5:p.Glu183=
ENST00000530292.3:c.148_149delinsGA (POLG) ENSP00000432885.2:p.Glu50=
ENST00000635986.2:c.547_548delinsGA (POLG) ENSP00000490653.2:p.Glu183=
ENST00000636774.1:c.547_548delinsGA (POLG) ENSP00000489799.1:p.Glu183=
ENST00000650303.2:c.602_603delinsGA (POLG) ENSP00000497242.2:p.Gly201=
ENST00000666746.1:c.204_205delinsGA (POLG)
ENST00000672071.1:n.745_746delinsGA (POLG)
ENST00000268124.9:c.547_548delinsGA (POLG) ENSP00000268124.5:p.Glu183=
ENST00000442287.6:c.547_548delinsGA (POLG) ENSP00000399851.2:p.Glu183=
ENST00000631044.2:c.547_548delinsGA (POLG) ENSP00000486730.1:p.Glu183=
NM_001126131.1:c.547_548delinsGA (POLG) NP_001119603.1:p.Glu183=
NM_002693.2:c.547_548delinsGA (POLG) NP_002684.1:p.Glu183=
NM_001126131.2:c.547_548delinsGA (POLG) NP_001119603.1:p.Glu183=
NM_002693.3:c.547_548delinsGA (POLG) MANE Select NP_002684.1:p.Glu183=