Canonical Allele Identifier: CA2805170399
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325727_89325729del , CM000677.2:g.89325727_89325729del GRCh38
NC_000015.9:g.89868958_89868960del , CM000677.1:g.89868958_89868960del GRCh37
NC_000015.8:g.87669962_87669964del NCBI36
NG_008218.1:g.14067_14069del
NG_008218.2:g.14067_14069del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1713-43_1713-41del ENSP00000516154.1:n.1713-43_1713-41del
ENST00000268124.11:c.1713-43_1713-41del MANE Select ENSP00000268124.5:n.1713-43_1713-41del
ENST00000530292.3:c.1314-43_1314-41del ENSP00000432885.2:n.1314-43_1314-41del
ENST00000635986.2:c.1713-43_1713-41del ENSP00000490653.2:n.1713-43_1713-41del
ENST00000636774.1:c.*280-43_*280-41del ENSP00000489799.1:n.*280-43_*280-41del
ENST00000637238.1:c.450-43_450-41del ENSP00000490756.1:n.450-43_450-41del
ENST00000637264.1:c.785-43_785-41del
ENST00000666746.1:c.1290-43_1290-41del
ENST00000670281.1:c.33-43_33-41del ENSP00000499709.1:n.33-43_33-41del
ENST00000672071.1:n.1911-43_1911-41del
ENST00000672923.2:n.1816-43_1816-41del
ENST00000268124.9:c.1713-43_1713-41del ENSP00000268124.5:n.1713-43_1713-41del
ENST00000442287.6:c.1713-43_1713-41del ENSP00000399851.2:n.1713-43_1713-41del
ENST00000526314.2:c.95-43_95-41del
ENST00000631044.2:c.*1096-43_*1096-41del ENSP00000486730.1:n.*1096-43_*1096-41del
NM_001126131.1:c.1713-43_1713-41del NP_001119603.1:n.1713-43_1713-41del
NM_002693.2:c.1713-43_1713-41del NP_002684.1:n.1713-43_1713-41del
NM_001126131.2:c.1713-43_1713-41del NP_001119603.1:n.1713-43_1713-41del
NM_002693.3:c.1713-43_1713-41del MANE Select NP_002684.1:n.1713-43_1713-41del