Canonical Allele Identifier: CA2194539788
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317633_89317641delinsTCCCCTGGA , CM000677.2:g.89317633_89317641delinsTCCCCTGGA GRCh38
NC_000015.9:g.89860864_89860872delinsTCCCCTGGA , CM000677.1:g.89860864_89860872delinsTCCCCTGGA GRCh37
NC_000015.8:g.87661868_87661876delinsTCCCCTGGA NCBI36
NG_008218.1:g.22155_22163delinsTCCAGGGGA
NG_011736.1:g.78671_78679delinsTCCCCTGGA , LRG_500:g.78671_78679delinsTCCCCTGGA
NG_008218.2:g.22155_22163delinsTCCAGGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3483-105_3483-97delinsTCCAGGGGA ENSP00000516154.1:n.3483-105_3483-97delinsTCCAGGGGA
ENST00000268124.11:c.3483-105_3483-97delinsTCCAGGGGA MANE Select ENSP00000268124.5:n.3483-105_3483-97delinsTCCAGGGGA
ENST00000530292.3:c.3183-105_3183-97delinsTCCAGGGGA ENSP00000432885.2:n.3183-105_3183-97delinsTCCAGGGGA
ENST00000635986.2:c.*553-105_*553-97delinsTCCAGGGGA ENSP00000490653.2:n.*553-105_*553-97delinsTCCAGGGGA
ENST00000636774.1:c.*2087-105_*2087-97delinsTCCAGGGGA ENSP00000489799.1:n.*2087-105_*2087-97delinsTCCAGGGGA
ENST00000637042.1:n.72-170_72-162delinsTCCAGGGGA
ENST00000637238.1:c.2391-105_2391-97delinsTCCAGGGGA ENSP00000490756.1:n.2391-105_2391-97delinsTCCAGGGGA
ENST00000637264.1:c.2555-165_2555-157delinsTCCAGGGGA
ENST00000666746.1:c.3060-105_3060-97delinsTCCAGGGGA
ENST00000672071.1:n.4580_4588delinsTCCAGGGGA
ENST00000672695.1:n.1262-105_1262-97delinsTCCAGGGGA
ENST00000672923.2:n.3483-105_3483-97delinsTCCAGGGGA
ENST00000268124.9:c.3483-105_3483-97delinsTCCAGGGGA ENSP00000268124.5:n.3483-105_3483-97delinsTCCAGGGGA
ENST00000442287.6:c.3483-105_3483-97delinsTCCAGGGGA ENSP00000399851.2:n.3483-105_3483-97delinsTCCAGGGGA
ENST00000526671.1:n.188_196delinsTCCAGGGGA
ENST00000530292.2:c.666-105_666-97delinsTCCAGGGGA ENSP00000432885.1:n.666-105_666-97delinsTCCAGGGGA
ENST00000631044.2:c.*2907-105_*2907-97delinsTCCAGGGGA ENSP00000486730.1:n.*2907-105_*2907-97delinsTCCAGGGGA
NM_001126131.1:c.3483-105_3483-97delinsTCCAGGGGA NP_001119603.1:n.3483-105_3483-97delinsTCCAGGGGA
NM_002693.2:c.3483-105_3483-97delinsTCCAGGGGA NP_002684.1:n.3483-105_3483-97delinsTCCAGGGGA
NM_001126131.2:c.3483-105_3483-97delinsTCCAGGGGA NP_001119603.1:n.3483-105_3483-97delinsTCCAGGGGA
NM_002693.3:c.3483-105_3483-97delinsTCCAGGGGA MANE Select NP_002684.1:n.3483-105_3483-97delinsTCCAGGGGA