Canonical Allele Identifier: CA2194554432
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323129_89323132delinsTAAC , CM000677.2:g.89323129_89323132delinsTAAC GRCh38
NC_000015.9:g.89866360_89866363delinsTAAC , CM000677.1:g.89866360_89866363delinsTAAC GRCh37
NC_000015.8:g.87667364_87667367delinsTAAC NCBI36
NG_008218.1:g.16664_16667delinsGTTA
NG_008218.2:g.16664_16667delinsGTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2266-230_2266-227delinsGTTA ENSP00000516154.1:n.2266-230_2266-227delinsGTTA
ENST00000268124.11:c.2266-230_2266-227delinsGTTA MANE Select ENSP00000268124.5:n.2266-230_2266-227delinsGTTA
ENST00000530292.3:c.1867-230_1867-227delinsGTTA ENSP00000432885.2:n.1867-230_1867-227delinsGTTA
ENST00000635986.2:c.2266-230_2266-227delinsGTTA ENSP00000490653.2:n.2266-230_2266-227delinsGTTA
ENST00000636774.1:c.*833-230_*833-227delinsGTTA ENSP00000489799.1:n.*833-230_*833-227delinsGTTA
ENST00000637238.1:c.963-230_963-227delinsGTTA ENSP00000490756.1:n.963-230_963-227delinsGTTA
ENST00000637264.1:c.1338-230_1338-227delinsGTTA
ENST00000666746.1:c.1843-230_1843-227delinsGTTA
ENST00000670281.1:c.586-230_586-227delinsGTTA ENSP00000499709.1:n.586-230_586-227delinsGTTA
ENST00000672071.1:n.2464-230_2464-227delinsGTTA
ENST00000672923.2:n.2368+272_2368+275delinsGTTA
ENST00000268124.9:c.2266-230_2266-227delinsGTTA ENSP00000268124.5:n.2266-230_2266-227delinsGTTA
ENST00000442287.6:c.2266-230_2266-227delinsGTTA ENSP00000399851.2:n.2266-230_2266-227delinsGTTA
ENST00000526314.2:c.540-230_540-227delinsGTTA
ENST00000526398.1:c.415-230_415-227delinsGTTA
ENST00000528881.2:c.35-230_35-227delinsGTTA
ENST00000530715.5:c.25-230_25-227delinsGTTA ENSP00000431395.1:n.25-230_25-227delinsGTTA
ENST00000532584.5:n.467+272_467+275delinsGTTA
ENST00000631044.2:c.*1690-230_*1690-227delinsGTTA ENSP00000486730.1:n.*1690-230_*1690-227delinsGTTA
NM_001126131.1:c.2266-230_2266-227delinsGTTA NP_001119603.1:n.2266-230_2266-227delinsGTTA
NM_002693.2:c.2266-230_2266-227delinsGTTA NP_002684.1:n.2266-230_2266-227delinsGTTA
NM_001126131.2:c.2266-230_2266-227delinsGTTA NP_001119603.1:n.2266-230_2266-227delinsGTTA
NM_002693.3:c.2266-230_2266-227delinsGTTA MANE Select NP_002684.1:n.2266-230_2266-227delinsGTTA