Canonical Allele Identifier: CA2805167589
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317686_89317691dup , CM000677.2:g.89317686_89317691dup GRCh38
NC_000015.9:g.89860917_89860922dup , CM000677.1:g.89860917_89860922dup GRCh37
NC_000015.8:g.87661921_87661926dup NCBI36
NG_008218.1:g.22107_22112dup
NG_011736.1:g.78724_78729dup , LRG_500:g.78724_78729dup
NG_008218.2:g.22107_22112dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3483-153_3483-148dup ENSP00000516154.1:n.3483-153_3483-148dup
ENST00000268124.11:c.3483-153_3483-148dup MANE Select ENSP00000268124.5:n.3483-153_3483-148dup
ENST00000530292.3:c.3183-153_3183-148dup ENSP00000432885.2:n.3183-153_3183-148dup
ENST00000635986.2:c.*553-153_*553-148dup ENSP00000490653.2:n.*553-153_*553-148dup
ENST00000636774.1:c.*2087-153_*2087-148dup ENSP00000489799.1:n.*2087-153_*2087-148dup
ENST00000637042.1:n.72-218_72-213dup
ENST00000637238.1:c.2391-153_2391-148dup ENSP00000490756.1:n.2391-153_2391-148dup
ENST00000637264.1:c.2555-213_2555-208dup
ENST00000666746.1:c.3060-153_3060-148dup
ENST00000672071.1:n.4532_4537dup
ENST00000672695.1:n.1262-153_1262-148dup
ENST00000672923.2:n.3483-153_3483-148dup
ENST00000268124.9:c.3483-153_3483-148dup ENSP00000268124.5:n.3483-153_3483-148dup
ENST00000442287.6:c.3483-153_3483-148dup ENSP00000399851.2:n.3483-153_3483-148dup
ENST00000526671.1:n.140_145dup
ENST00000530292.2:c.666-153_666-148dup ENSP00000432885.1:n.666-153_666-148dup
ENST00000631044.2:c.*2907-153_*2907-148dup ENSP00000486730.1:n.*2907-153_*2907-148dup
NM_001126131.1:c.3483-153_3483-148dup NP_001119603.1:n.3483-153_3483-148dup
NM_002693.2:c.3483-153_3483-148dup NP_002684.1:n.3483-153_3483-148dup
NM_001126131.2:c.3483-153_3483-148dup NP_001119603.1:n.3483-153_3483-148dup
NM_002693.3:c.3483-153_3483-148dup MANE Select NP_002684.1:n.3483-153_3483-148dup