Canonical Allele Identifier: CA2194550999
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325744_89325745delinsAG , CM000677.2:g.89325744_89325745delinsAG GRCh38
NC_000015.9:g.89868975_89868976delinsAG , CM000677.1:g.89868975_89868976delinsAG GRCh37
NC_000015.8:g.87669979_87669980delinsAG NCBI36
NG_008218.1:g.14051_14052delinsCT
NG_008218.2:g.14051_14052delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1713-59_1713-58delinsCT ENSP00000516154.1:n.1713-59_1713-58delinsCT
ENST00000268124.11:c.1713-59_1713-58delinsCT MANE Select ENSP00000268124.5:n.1713-59_1713-58delinsCT
ENST00000530292.3:c.1314-59_1314-58delinsCT ENSP00000432885.2:n.1314-59_1314-58delinsCT
ENST00000635986.2:c.1713-59_1713-58delinsCT ENSP00000490653.2:n.1713-59_1713-58delinsCT
ENST00000636774.1:c.*280-59_*280-58delinsCT ENSP00000489799.1:n.*280-59_*280-58delinsCT
ENST00000637238.1:c.450-59_450-58delinsCT ENSP00000490756.1:n.450-59_450-58delinsCT
ENST00000637264.1:c.785-59_785-58delinsCT
ENST00000666746.1:c.1290-59_1290-58delinsCT
ENST00000670281.1:c.33-59_33-58delinsCT ENSP00000499709.1:n.33-59_33-58delinsCT
ENST00000672071.1:n.1911-59_1911-58delinsCT
ENST00000672923.2:n.1816-59_1816-58delinsCT
ENST00000268124.9:c.1713-59_1713-58delinsCT ENSP00000268124.5:n.1713-59_1713-58delinsCT
ENST00000442287.6:c.1713-59_1713-58delinsCT ENSP00000399851.2:n.1713-59_1713-58delinsCT
ENST00000526314.2:c.95-59_95-58delinsCT
ENST00000631044.2:c.*1096-59_*1096-58delinsCT ENSP00000486730.1:n.*1096-59_*1096-58delinsCT
NM_001126131.1:c.1713-59_1713-58delinsCT NP_001119603.1:n.1713-59_1713-58delinsCT
NM_002693.2:c.1713-59_1713-58delinsCT NP_002684.1:n.1713-59_1713-58delinsCT
NM_001126131.2:c.1713-59_1713-58delinsCT NP_001119603.1:n.1713-59_1713-58delinsCT
NM_002693.3:c.1713-59_1713-58delinsCT MANE Select NP_002684.1:n.1713-59_1713-58delinsCT