Canonical Allele Identifier: CA2194550781
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325716_89325717delinsAC , CM000677.2:g.89325716_89325717delinsAC GRCh38
NC_000015.9:g.89868947_89868948delinsAC , CM000677.1:g.89868947_89868948delinsAC GRCh37
NC_000015.8:g.87669951_87669952delinsAC NCBI36
NG_008218.1:g.14079_14080delinsGT
NG_008218.2:g.14079_14080delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1713-31_1713-30delinsGT ENSP00000516154.1:n.1713-31_1713-30delinsGT
ENST00000268124.11:c.1713-31_1713-30delinsGT MANE Select ENSP00000268124.5:n.1713-31_1713-30delinsGT
ENST00000530292.3:c.1314-31_1314-30delinsGT ENSP00000432885.2:n.1314-31_1314-30delinsGT
ENST00000635986.2:c.1713-31_1713-30delinsGT ENSP00000490653.2:n.1713-31_1713-30delinsGT
ENST00000636774.1:c.*280-31_*280-30delinsGT ENSP00000489799.1:n.*280-31_*280-30delinsGT
ENST00000637238.1:c.450-31_450-30delinsGT ENSP00000490756.1:n.450-31_450-30delinsGT
ENST00000637264.1:c.785-31_785-30delinsGT
ENST00000666746.1:c.1290-31_1290-30delinsGT
ENST00000670281.1:c.33-31_33-30delinsGT ENSP00000499709.1:n.33-31_33-30delinsGT
ENST00000672071.1:n.1911-31_1911-30delinsGT
ENST00000672923.2:n.1816-31_1816-30delinsGT
ENST00000268124.9:c.1713-31_1713-30delinsGT ENSP00000268124.5:n.1713-31_1713-30delinsGT
ENST00000442287.6:c.1713-31_1713-30delinsGT ENSP00000399851.2:n.1713-31_1713-30delinsGT
ENST00000526314.2:c.95-31_95-30delinsGT
ENST00000631044.2:c.*1096-31_*1096-30delinsGT ENSP00000486730.1:n.*1096-31_*1096-30delinsGT
NM_001126131.1:c.1713-31_1713-30delinsGT NP_001119603.1:n.1713-31_1713-30delinsGT
NM_002693.2:c.1713-31_1713-30delinsGT NP_002684.1:n.1713-31_1713-30delinsGT
NM_001126131.2:c.1713-31_1713-30delinsGT NP_001119603.1:n.1713-31_1713-30delinsGT
NM_002693.3:c.1713-31_1713-30delinsGT MANE Select NP_002684.1:n.1713-31_1713-30delinsGT