Canonical Allele Identifier: CA972589871
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325278_89325279insTGAGTGAGAG , CM000677.2:g.89325278_89325279insTGAGTGAGAG GRCh38
NC_000015.9:g.89868509_89868510insTGAGTGAGAG , CM000677.1:g.89868509_89868510insTGAGTGAGAG GRCh37
NC_000015.8:g.87669513_87669514insTGAGTGAGAG NCBI36
NG_008218.1:g.14522_14523insACTCACTCTC
NG_008218.2:g.14522_14523insACTCACTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1949+176_1949+177insACTCACTCTC ENSP00000516154.1:n.1949+176_1949+177insACTCACTCTC
ENST00000268124.11:c.1949+176_1949+177insACTCACTCTC MANE Select ENSP00000268124.5:n.1949+176_1949+177insACTCACTCTC
ENST00000530292.3:c.1550+176_1550+177insACTCACTCTC ENSP00000432885.2:n.1550+176_1550+177insACTCACTCTC
ENST00000635986.2:c.1949+176_1949+177insACTCACTCTC ENSP00000490653.2:n.1949+176_1949+177insACTCACTCTC
ENST00000636774.1:c.*516+176_*516+177insACTCACTCTC ENSP00000489799.1:n.*516+176_*516+177insACTCACTCTC
ENST00000637238.1:c.646+216_646+217insACTCACTCTC ENSP00000490756.1:n.646+216_646+217insACTCACTCTC
ENST00000637264.1:c.1021+176_1021+177insACTCACTCTC
ENST00000666746.1:c.1526+176_1526+177insACTCACTCTC
ENST00000670281.1:c.269+176_269+177insACTCACTCTC ENSP00000499709.1:n.269+176_269+177insACTCACTCTC
ENST00000672071.1:n.2147+176_2147+177insACTCACTCTC
ENST00000672923.2:n.2052+176_2052+177insACTCACTCTC
ENST00000268124.9:c.1949+176_1949+177insACTCACTCTC ENSP00000268124.5:n.1949+176_1949+177insACTCACTCTC
ENST00000442287.6:c.1949+176_1949+177insACTCACTCTC ENSP00000399851.2:n.1949+176_1949+177insACTCACTCTC
ENST00000526314.2:c.331+176_331+177insACTCACTCTC
ENST00000526398.1:c.138+176_138+177insACTCACTCTC
ENST00000526573.1:n.35+176_35+177insACTCACTCTC
ENST00000532584.5:n.151+176_151+177insACTCACTCTC
ENST00000631044.2:c.*1332+176_*1332+177insACTCACTCTC ENSP00000486730.1:n.*1332+176_*1332+177insACTCACTCTC
NM_001126131.1:c.1949+176_1949+177insACTCACTCTC NP_001119603.1:n.1949+176_1949+177insACTCACTCTC
NM_002693.2:c.1949+176_1949+177insACTCACTCTC NP_002684.1:n.1949+176_1949+177insACTCACTCTC
NM_001126131.2:c.1949+176_1949+177insACTCACTCTC NP_001119603.1:n.1949+176_1949+177insACTCACTCTC
NM_002693.3:c.1949+176_1949+177insACTCACTCTC MANE Select NP_002684.1:n.1949+176_1949+177insACTCACTCTC