Canonical Allele Identifier: CA2194549077
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325296_89325297delinsGA , CM000677.2:g.89325296_89325297delinsGA GRCh38
NC_000015.9:g.89868527_89868528delinsGA , CM000677.1:g.89868527_89868528delinsGA GRCh37
NC_000015.8:g.87669531_87669532delinsGA NCBI36
NG_008218.1:g.14499_14500delinsTC
NG_008218.2:g.14499_14500delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1949+153_1949+154delinsTC ENSP00000516154.1:n.1949+153_1949+154delinsTC
ENST00000268124.11:c.1949+153_1949+154delinsTC MANE Select ENSP00000268124.5:n.1949+153_1949+154delinsTC
ENST00000530292.3:c.1550+153_1550+154delinsTC ENSP00000432885.2:n.1550+153_1550+154delinsTC
ENST00000635986.2:c.1949+153_1949+154delinsTC ENSP00000490653.2:n.1949+153_1949+154delinsTC
ENST00000636774.1:c.*516+153_*516+154delinsTC ENSP00000489799.1:n.*516+153_*516+154delinsTC
ENST00000637238.1:c.646+193_646+194delinsTC ENSP00000490756.1:n.646+193_646+194delinsTC
ENST00000637264.1:c.1021+153_1021+154delinsTC
ENST00000666746.1:c.1526+153_1526+154delinsTC
ENST00000670281.1:c.269+153_269+154delinsTC ENSP00000499709.1:n.269+153_269+154delinsTC
ENST00000672071.1:n.2147+153_2147+154delinsTC
ENST00000672923.2:n.2052+153_2052+154delinsTC
ENST00000268124.9:c.1949+153_1949+154delinsTC ENSP00000268124.5:n.1949+153_1949+154delinsTC
ENST00000442287.6:c.1949+153_1949+154delinsTC ENSP00000399851.2:n.1949+153_1949+154delinsTC
ENST00000526314.2:c.331+153_331+154delinsTC
ENST00000526398.1:c.138+153_138+154delinsTC
ENST00000526573.1:n.35+153_35+154delinsTC
ENST00000532584.5:n.151+153_151+154delinsTC
ENST00000631044.2:c.*1332+153_*1332+154delinsTC ENSP00000486730.1:n.*1332+153_*1332+154delinsTC
NM_001126131.1:c.1949+153_1949+154delinsTC NP_001119603.1:n.1949+153_1949+154delinsTC
NM_002693.2:c.1949+153_1949+154delinsTC NP_002684.1:n.1949+153_1949+154delinsTC
NM_001126131.2:c.1949+153_1949+154delinsTC NP_001119603.1:n.1949+153_1949+154delinsTC
NM_002693.3:c.1949+153_1949+154delinsTC MANE Select NP_002684.1:n.1949+153_1949+154delinsTC