Canonical Allele Identifier: CA2194549193
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325299_89325305delinsGGTGTGT , CM000677.2:g.89325299_89325305delinsGGTGTGT GRCh38
NC_000015.9:g.89868530_89868536delinsGGTGTGT , CM000677.1:g.89868530_89868536delinsGGTGTGT GRCh37
NC_000015.8:g.87669534_87669540delinsGGTGTGT NCBI36
NG_008218.1:g.14491_14497delinsACACACC
NG_008218.2:g.14491_14497delinsACACACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1949+145_1949+151delinsACACACC ENSP00000516154.1:n.1949+145_1949+151delinsACACACC
ENST00000268124.11:c.1949+145_1949+151delinsACACACC MANE Select ENSP00000268124.5:n.1949+145_1949+151delinsACACACC
ENST00000530292.3:c.1550+145_1550+151delinsACACACC ENSP00000432885.2:n.1550+145_1550+151delinsACACACC
ENST00000635986.2:c.1949+145_1949+151delinsACACACC ENSP00000490653.2:n.1949+145_1949+151delinsACACACC
ENST00000636774.1:c.*516+145_*516+151delinsACACACC ENSP00000489799.1:n.*516+145_*516+151delinsACACACC
ENST00000637238.1:c.646+185_646+191delinsACACACC ENSP00000490756.1:n.646+185_646+191delinsACACACC
ENST00000637264.1:c.1021+145_1021+151delinsACACACC
ENST00000666746.1:c.1526+145_1526+151delinsACACACC
ENST00000670281.1:c.269+145_269+151delinsACACACC ENSP00000499709.1:n.269+145_269+151delinsACACACC
ENST00000672071.1:n.2147+145_2147+151delinsACACACC
ENST00000672923.2:n.2052+145_2052+151delinsACACACC
ENST00000268124.9:c.1949+145_1949+151delinsACACACC ENSP00000268124.5:n.1949+145_1949+151delinsACACACC
ENST00000442287.6:c.1949+145_1949+151delinsACACACC ENSP00000399851.2:n.1949+145_1949+151delinsACACACC
ENST00000526314.2:c.331+145_331+151delinsACACACC
ENST00000526398.1:c.138+145_138+151delinsACACACC
ENST00000526573.1:n.35+145_35+151delinsACACACC
ENST00000532584.5:n.151+145_151+151delinsACACACC
ENST00000631044.2:c.*1332+145_*1332+151delinsACACACC ENSP00000486730.1:n.*1332+145_*1332+151delinsACACACC
NM_001126131.1:c.1949+145_1949+151delinsACACACC NP_001119603.1:n.1949+145_1949+151delinsACACACC
NM_002693.2:c.1949+145_1949+151delinsACACACC NP_002684.1:n.1949+145_1949+151delinsACACACC
NM_001126131.2:c.1949+145_1949+151delinsACACACC NP_001119603.1:n.1949+145_1949+151delinsACACACC
NM_002693.3:c.1949+145_1949+151delinsACACACC MANE Select NP_002684.1:n.1949+145_1949+151delinsACACACC