Canonical Allele Identifier: CA2805170415
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325739_89325743del , CM000677.2:g.89325739_89325743del GRCh38
NC_000015.9:g.89868970_89868974del , CM000677.1:g.89868970_89868974del GRCh37
NC_000015.8:g.87669974_87669978del NCBI36
NG_008218.1:g.14053_14057del
NG_008218.2:g.14053_14057del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1713-57_1713-53del ENSP00000516154.1:n.1713-57_1713-53del
ENST00000268124.11:c.1713-57_1713-53del MANE Select ENSP00000268124.5:n.1713-57_1713-53del
ENST00000530292.3:c.1314-57_1314-53del ENSP00000432885.2:n.1314-57_1314-53del
ENST00000635986.2:c.1713-57_1713-53del ENSP00000490653.2:n.1713-57_1713-53del
ENST00000636774.1:c.*280-57_*280-53del ENSP00000489799.1:n.*280-57_*280-53del
ENST00000637238.1:c.450-57_450-53del ENSP00000490756.1:n.450-57_450-53del
ENST00000637264.1:c.785-57_785-53del
ENST00000666746.1:c.1290-57_1290-53del
ENST00000670281.1:c.33-57_33-53del ENSP00000499709.1:n.33-57_33-53del
ENST00000672071.1:n.1911-57_1911-53del
ENST00000672923.2:n.1816-57_1816-53del
ENST00000268124.9:c.1713-57_1713-53del ENSP00000268124.5:n.1713-57_1713-53del
ENST00000442287.6:c.1713-57_1713-53del ENSP00000399851.2:n.1713-57_1713-53del
ENST00000526314.2:c.95-57_95-53del
ENST00000631044.2:c.*1096-57_*1096-53del ENSP00000486730.1:n.*1096-57_*1096-53del
NM_001126131.1:c.1713-57_1713-53del NP_001119603.1:n.1713-57_1713-53del
NM_002693.2:c.1713-57_1713-53del NP_002684.1:n.1713-57_1713-53del
NM_001126131.2:c.1713-57_1713-53del NP_001119603.1:n.1713-57_1713-53del
NM_002693.3:c.1713-57_1713-53del MANE Select NP_002684.1:n.1713-57_1713-53del