Canonical Allele Identifier: CA2805170385
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325708_89325709del , CM000677.2:g.89325708_89325709del GRCh38
NC_000015.9:g.89868939_89868940del , CM000677.1:g.89868939_89868940del GRCh37
NC_000015.8:g.87669943_87669944del NCBI36
NG_008218.1:g.14087_14088del
NG_008218.2:g.14087_14088del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1713-23_1713-22del ENSP00000516154.1:n.1713-23_1713-22del
ENST00000268124.11:c.1713-23_1713-22del MANE Select ENSP00000268124.5:n.1713-23_1713-22del
ENST00000530292.3:c.1314-23_1314-22del ENSP00000432885.2:n.1314-23_1314-22del
ENST00000635986.2:c.1713-23_1713-22del ENSP00000490653.2:n.1713-23_1713-22del
ENST00000636774.1:c.*280-23_*280-22del ENSP00000489799.1:n.*280-23_*280-22del
ENST00000637238.1:c.450-23_450-22del ENSP00000490756.1:n.450-23_450-22del
ENST00000637264.1:c.785-23_785-22del
ENST00000666746.1:c.1290-23_1290-22del
ENST00000670281.1:c.33-23_33-22del ENSP00000499709.1:n.33-23_33-22del
ENST00000672071.1:n.1911-23_1911-22del
ENST00000672923.2:n.1816-23_1816-22del
ENST00000268124.9:c.1713-23_1713-22del ENSP00000268124.5:n.1713-23_1713-22del
ENST00000442287.6:c.1713-23_1713-22del ENSP00000399851.2:n.1713-23_1713-22del
ENST00000526314.2:c.95-23_95-22del
ENST00000631044.2:c.*1096-23_*1096-22del ENSP00000486730.1:n.*1096-23_*1096-22del
NM_001126131.1:c.1713-23_1713-22del NP_001119603.1:n.1713-23_1713-22del
NM_002693.2:c.1713-23_1713-22del NP_002684.1:n.1713-23_1713-22del
NM_001126131.2:c.1713-23_1713-22del NP_001119603.1:n.1713-23_1713-22del
NM_002693.3:c.1713-23_1713-22del MANE Select NP_002684.1:n.1713-23_1713-22del