Canonical Allele Identifier: CA2630252722
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325712_89325721del , CM000677.2:g.89325712_89325721del GRCh38
NC_000015.9:g.89868943_89868952del , CM000677.1:g.89868943_89868952del GRCh37
NC_000015.8:g.87669947_87669956del NCBI36
NG_008218.1:g.14076_14085del
NG_008218.2:g.14076_14085del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1713-34_1713-25del ENSP00000516154.1:n.1713-34_1713-25del
ENST00000268124.11:c.1713-34_1713-25del MANE Select ENSP00000268124.5:n.1713-34_1713-25del
ENST00000530292.3:c.1314-34_1314-25del ENSP00000432885.2:n.1314-34_1314-25del
ENST00000635986.2:c.1713-34_1713-25del ENSP00000490653.2:n.1713-34_1713-25del
ENST00000636774.1:c.*280-34_*280-25del ENSP00000489799.1:n.*280-34_*280-25del
ENST00000637238.1:c.450-34_450-25del ENSP00000490756.1:n.450-34_450-25del
ENST00000637264.1:c.785-34_785-25del
ENST00000666746.1:c.1290-34_1290-25del
ENST00000670281.1:c.33-34_33-25del ENSP00000499709.1:n.33-34_33-25del
ENST00000672071.1:n.1911-34_1911-25del
ENST00000672923.2:n.1816-34_1816-25del
ENST00000268124.9:c.1713-34_1713-25del ENSP00000268124.5:n.1713-34_1713-25del
ENST00000442287.6:c.1713-34_1713-25del ENSP00000399851.2:n.1713-34_1713-25del
ENST00000526314.2:c.95-34_95-25del
ENST00000631044.2:c.*1096-34_*1096-25del ENSP00000486730.1:n.*1096-34_*1096-25del
NM_001126131.1:c.1713-34_1713-25del NP_001119603.1:n.1713-34_1713-25del
NM_002693.2:c.1713-34_1713-25del NP_002684.1:n.1713-34_1713-25del
NM_001126131.2:c.1713-34_1713-25del NP_001119603.1:n.1713-34_1713-25del
NM_002693.3:c.1713-34_1713-25del MANE Select NP_002684.1:n.1713-34_1713-25del