Canonical Allele Identifier: CA2194549043
Gene: POLG HGNC NCBI

Linked Data

dbSNP Id: rs1308551575

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325294_89325295insGGTGTGTGTGTG , CM000677.2:g.89325294_89325295insGGTGTGTGTGTG GRCh38
NC_000015.9:g.89868525_89868526insGGTGTGTGTGTG , CM000677.1:g.89868525_89868526insGGTGTGTGTGTG GRCh37
NC_000015.8:g.87669529_87669530insGGTGTGTGTGTG NCBI36
NG_008218.1:g.14502_14503insACACACACACCC
NG_008218.2:g.14502_14503insACACACACACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1949+156_1949+157insACACACACACCC ENSP00000516154.1:n.1949+156_1949+157insACACACACACCC
ENST00000268124.11:c.1949+156_1949+157insACACACACACCC MANE Select ENSP00000268124.5:n.1949+156_1949+157insACACACACACCC
ENST00000530292.3:c.1550+156_1550+157insACACACACACCC ENSP00000432885.2:n.1550+156_1550+157insACACACACACCC
ENST00000635986.2:c.1949+156_1949+157insACACACACACCC ENSP00000490653.2:n.1949+156_1949+157insACACACACACCC
ENST00000636774.1:c.*516+156_*516+157insACACACACACCC ENSP00000489799.1:n.*516+156_*516+157insACACACACACCC
ENST00000637238.1:c.646+196_646+197insACACACACACCC ENSP00000490756.1:n.646+196_646+197insACACACACACCC
ENST00000637264.1:c.1021+156_1021+157insACACACACACCC
ENST00000666746.1:c.1526+156_1526+157insACACACACACCC
ENST00000670281.1:c.269+156_269+157insACACACACACCC ENSP00000499709.1:n.269+156_269+157insACACACACACCC
ENST00000672071.1:n.2147+156_2147+157insACACACACACCC
ENST00000672923.2:n.2052+156_2052+157insACACACACACCC
ENST00000268124.9:c.1949+156_1949+157insACACACACACCC ENSP00000268124.5:n.1949+156_1949+157insACACACACACCC
ENST00000442287.6:c.1949+156_1949+157insACACACACACCC ENSP00000399851.2:n.1949+156_1949+157insACACACACACCC
ENST00000526314.2:c.331+156_331+157insACACACACACCC
ENST00000526398.1:c.138+156_138+157insACACACACACCC
ENST00000526573.1:n.35+156_35+157insACACACACACCC
ENST00000532584.5:n.151+156_151+157insACACACACACCC
ENST00000631044.2:c.*1332+156_*1332+157insACACACACACCC ENSP00000486730.1:n.*1332+156_*1332+157insACACACACACCC
NM_001126131.1:c.1949+156_1949+157insACACACACACCC NP_001119603.1:n.1949+156_1949+157insACACACACACCC
NM_002693.2:c.1949+156_1949+157insACACACACACCC NP_002684.1:n.1949+156_1949+157insACACACACACCC
NM_001126131.2:c.1949+156_1949+157insACACACACACCC NP_001119603.1:n.1949+156_1949+157insACACACACACCC
NM_002693.3:c.1949+156_1949+157insACACACACACCC MANE Select NP_002684.1:n.1949+156_1949+157insACACACACACCC