This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA3024408883
Gene: POLG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317764_89317765insA , CM000677.2:g.89317764_89317765insA GRCh38
NC_000015.9:g.89860995_89860996insA , CM000677.1:g.89860995_89860996insA GRCh37
NC_000015.8:g.87661999_87662000insA NCBI36
NG_008218.1:g.22031_22032insT
NG_011736.1:g.78802_78803insA , LRG_500:g.78802_78803insA
NG_008218.2:g.22031_22032insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3483-229_3483-228insT ENSP00000516154.1:n.3483-229_3483-228insT
ENST00000268124.11:c.3483-229_3483-228insT MANE Select ENSP00000268124.5:n.3483-229_3483-228insT
ENST00000530292.3:c.3182+174_3182+175insT ENSP00000432885.2:n.3182+174_3182+175insT
ENST00000635986.2:c.*553-229_*553-228insT ENSP00000490653.2:n.*553-229_*553-228insT
ENST00000636774.1:c.*2086+174_*2086+175insT ENSP00000489799.1:n.*2086+174_*2086+175insT
ENST00000637042.1:n.71+174_71+175insT
ENST00000637238.1:c.2390+174_2390+175insT ENSP00000490756.1:n.2390+174_2390+175insT
ENST00000637264.1:c.2555-289_2555-288insT
ENST00000666746.1:c.3060-229_3060-228insT
ENST00000672071.1:n.4456_4457insT
ENST00000672695.1:n.1261+174_1261+175insT
ENST00000672923.2:n.3483-229_3483-228insT
ENST00000268124.9:c.3483-229_3483-228insT ENSP00000268124.5:n.3483-229_3483-228insT
ENST00000442287.6:c.3483-229_3483-228insT ENSP00000399851.2:n.3483-229_3483-228insT
ENST00000526671.1:n.64_65insT
ENST00000530292.2:c.665+174_665+175insT ENSP00000432885.1:n.665+174_665+175insT
ENST00000631044.2:c.*2907-229_*2907-228insT ENSP00000486730.1:n.*2907-229_*2907-228insT
NM_001126131.1:c.3483-229_3483-228insT NP_001119603.1:n.3483-229_3483-228insT
NM_002693.2:c.3483-229_3483-228insT NP_002684.1:n.3483-229_3483-228insT
NM_001126131.2:c.3483-229_3483-228insT NP_001119603.1:n.3483-229_3483-228insT
NM_002693.3:c.3483-229_3483-228insT MANE Select NP_002684.1:n.3483-229_3483-228insT
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