Canonical Allele Identifier: CA2194554596
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323183_89323184delinsGC , CM000677.2:g.89323183_89323184delinsGC GRCh38
NC_000015.9:g.89866414_89866415delinsGC , CM000677.1:g.89866414_89866415delinsGC GRCh37
NC_000015.8:g.87667418_87667419delinsGC NCBI36
NG_008218.1:g.16612_16613delinsGC
NG_008218.2:g.16612_16613delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2265+220_2265+221delinsGC ENSP00000516154.1:n.2265+220_2265+221delinsGC
ENST00000268124.11:c.2265+220_2265+221delinsGC MANE Select ENSP00000268124.5:n.2265+220_2265+221delinsGC
ENST00000530292.3:c.1866+220_1866+221delinsGC ENSP00000432885.2:n.1866+220_1866+221delinsGC
ENST00000635986.2:c.2265+220_2265+221delinsGC ENSP00000490653.2:n.2265+220_2265+221delinsGC
ENST00000636774.1:c.*832+220_*832+221delinsGC ENSP00000489799.1:n.*832+220_*832+221delinsGC
ENST00000637238.1:c.962+220_962+221delinsGC ENSP00000490756.1:n.962+220_962+221delinsGC
ENST00000637264.1:c.1337+220_1337+221delinsGC
ENST00000666746.1:c.1842+220_1842+221delinsGC
ENST00000670281.1:c.585+220_585+221delinsGC ENSP00000499709.1:n.585+220_585+221delinsGC
ENST00000672071.1:n.2463+220_2463+221delinsGC
ENST00000672923.2:n.2368+220_2368+221delinsGC
ENST00000268124.9:c.2265+220_2265+221delinsGC ENSP00000268124.5:n.2265+220_2265+221delinsGC
ENST00000442287.6:c.2265+220_2265+221delinsGC ENSP00000399851.2:n.2265+220_2265+221delinsGC
ENST00000526314.2:c.540-282_540-281delinsGC
ENST00000526398.1:c.414+220_414+221delinsGC
ENST00000528881.2:c.34+220_34+221delinsGC
ENST00000530715.5:c.24+220_24+221delinsGC ENSP00000431395.1:n.24+220_24+221delinsGC
ENST00000532584.5:n.467+220_467+221delinsGC
ENST00000631044.2:c.*1689+220_*1689+221delinsGC ENSP00000486730.1:n.*1689+220_*1689+221delinsGC
NM_001126131.1:c.2265+220_2265+221delinsGC NP_001119603.1:n.2265+220_2265+221delinsGC
NM_002693.2:c.2265+220_2265+221delinsGC NP_002684.1:n.2265+220_2265+221delinsGC
NM_001126131.2:c.2265+220_2265+221delinsGC NP_001119603.1:n.2265+220_2265+221delinsGC
NM_002693.3:c.2265+220_2265+221delinsGC MANE Select NP_002684.1:n.2265+220_2265+221delinsGC