Canonical Allele Identifier: CA2805170463
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325763_89325766del , CM000677.2:g.89325763_89325766del GRCh38
NC_000015.9:g.89868994_89868997del , CM000677.1:g.89868994_89868997del GRCh37
NC_000015.8:g.87669998_87670001del NCBI36
NG_008218.1:g.14030_14033del
NG_008218.2:g.14030_14033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1713-80_1713-77del ENSP00000516154.1:n.1713-80_1713-77del
ENST00000268124.11:c.1713-80_1713-77del MANE Select ENSP00000268124.5:n.1713-80_1713-77del
ENST00000530292.3:c.1314-80_1314-77del ENSP00000432885.2:n.1314-80_1314-77del
ENST00000635986.2:c.1713-80_1713-77del ENSP00000490653.2:n.1713-80_1713-77del
ENST00000636774.1:c.*280-80_*280-77del ENSP00000489799.1:n.*280-80_*280-77del
ENST00000637238.1:c.450-80_450-77del ENSP00000490756.1:n.450-80_450-77del
ENST00000637264.1:c.785-80_785-77del
ENST00000666746.1:c.1290-80_1290-77del
ENST00000670281.1:c.33-80_33-77del ENSP00000499709.1:n.33-80_33-77del
ENST00000672071.1:n.1911-80_1911-77del
ENST00000672923.2:n.1816-80_1816-77del
ENST00000268124.9:c.1713-80_1713-77del ENSP00000268124.5:n.1713-80_1713-77del
ENST00000442287.6:c.1713-80_1713-77del ENSP00000399851.2:n.1713-80_1713-77del
ENST00000526314.2:c.95-80_95-77del
ENST00000631044.2:c.*1096-80_*1096-77del ENSP00000486730.1:n.*1096-80_*1096-77del
NM_001126131.1:c.1713-80_1713-77del NP_001119603.1:n.1713-80_1713-77del
NM_002693.2:c.1713-80_1713-77del NP_002684.1:n.1713-80_1713-77del
NM_001126131.2:c.1713-80_1713-77del NP_001119603.1:n.1713-80_1713-77del
NM_002693.3:c.1713-80_1713-77del MANE Select NP_002684.1:n.1713-80_1713-77del