Canonical Allele Identifier: CA2630251957
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325310_89325311insGGTGTG , CM000677.2:g.89325310_89325311insGGTGTG GRCh38
NC_000015.9:g.89868541_89868542insGGTGTG , CM000677.1:g.89868541_89868542insGGTGTG GRCh37
NC_000015.8:g.87669545_87669546insGGTGTG NCBI36
NG_008218.1:g.14490_14491insCCACAC
NG_008218.2:g.14490_14491insCCACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1949+144_1949+145insCCACAC ENSP00000516154.1:n.1949+144_1949+145insCCACAC
ENST00000268124.11:c.1949+144_1949+145insCCACAC MANE Select ENSP00000268124.5:n.1949+144_1949+145insCCACAC
ENST00000530292.3:c.1550+144_1550+145insCCACAC ENSP00000432885.2:n.1550+144_1550+145insCCACAC
ENST00000635986.2:c.1949+144_1949+145insCCACAC ENSP00000490653.2:n.1949+144_1949+145insCCACAC
ENST00000636774.1:c.*516+144_*516+145insCCACAC ENSP00000489799.1:n.*516+144_*516+145insCCACAC
ENST00000637238.1:c.646+184_646+185insCCACAC ENSP00000490756.1:n.646+184_646+185insCCACAC
ENST00000637264.1:c.1021+144_1021+145insCCACAC
ENST00000666746.1:c.1526+144_1526+145insCCACAC
ENST00000670281.1:c.269+144_269+145insCCACAC ENSP00000499709.1:n.269+144_269+145insCCACAC
ENST00000672071.1:n.2147+144_2147+145insCCACAC
ENST00000672923.2:n.2052+144_2052+145insCCACAC
ENST00000268124.9:c.1949+144_1949+145insCCACAC ENSP00000268124.5:n.1949+144_1949+145insCCACAC
ENST00000442287.6:c.1949+144_1949+145insCCACAC ENSP00000399851.2:n.1949+144_1949+145insCCACAC
ENST00000526314.2:c.331+144_331+145insCCACAC
ENST00000526398.1:c.138+144_138+145insCCACAC
ENST00000526573.1:n.35+144_35+145insCCACAC
ENST00000532584.5:n.151+144_151+145insCCACAC
ENST00000631044.2:c.*1332+144_*1332+145insCCACAC ENSP00000486730.1:n.*1332+144_*1332+145insCCACAC
NM_001126131.1:c.1949+144_1949+145insCCACAC NP_001119603.1:n.1949+144_1949+145insCCACAC
NM_002693.2:c.1949+144_1949+145insCCACAC NP_002684.1:n.1949+144_1949+145insCCACAC
NM_001126131.2:c.1949+144_1949+145insCCACAC NP_001119603.1:n.1949+144_1949+145insCCACAC
NM_002693.3:c.1949+144_1949+145insCCACAC MANE Select NP_002684.1:n.1949+144_1949+145insCCACAC