Canonical Allele Identifier: CA2194556136
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89326842_89326843delinsAC , CM000677.2:g.89326842_89326843delinsAC GRCh38
NC_000015.9:g.89870073_89870074delinsAC , CM000677.1:g.89870073_89870074delinsAC GRCh37
NC_000015.8:g.87671077_87671078delinsAC NCBI36
NG_008218.1:g.12953_12954delinsGT
NG_008218.2:g.12953_12954delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1585+69_1585+70delinsGT ENSP00000516154.1:n.1585+69_1585+70delinsGT
ENST00000268124.11:c.1585+69_1585+70delinsGT MANE Select ENSP00000268124.5:n.1585+69_1585+70delinsGT
ENST00000530292.3:c.1186+69_1186+70delinsGT ENSP00000432885.2:n.1186+69_1186+70delinsGT
ENST00000635986.2:c.1585+69_1585+70delinsGT ENSP00000490653.2:n.1585+69_1585+70delinsGT
ENST00000636774.1:c.*152+69_*152+70delinsGT ENSP00000489799.1:n.*152+69_*152+70delinsGT
ENST00000637238.1:c.322+69_322+70delinsGT ENSP00000490756.1:n.322+69_322+70delinsGT
ENST00000637264.1:c.657+69_657+70delinsGT
ENST00000666746.1:c.1162+69_1162+70delinsGT
ENST00000672071.1:n.1783+69_1783+70delinsGT
ENST00000672923.2:n.1688+69_1688+70delinsGT
ENST00000268124.9:c.1585+69_1585+70delinsGT ENSP00000268124.5:n.1585+69_1585+70delinsGT
ENST00000442287.6:c.1585+69_1585+70delinsGT ENSP00000399851.2:n.1585+69_1585+70delinsGT
ENST00000631044.2:c.*968+69_*968+70delinsGT ENSP00000486730.1:n.*968+69_*968+70delinsGT
NM_001126131.1:c.1585+69_1585+70delinsGT NP_001119603.1:n.1585+69_1585+70delinsGT
NM_002693.2:c.1585+69_1585+70delinsGT NP_002684.1:n.1585+69_1585+70delinsGT
NM_001126131.2:c.1585+69_1585+70delinsGT NP_001119603.1:n.1585+69_1585+70delinsGT
NM_002693.3:c.1585+69_1585+70delinsGT MANE Select NP_002684.1:n.1585+69_1585+70delinsGT