Canonical Allele Identifier: CA2194563078
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329157_89329186delinsCTGTGGGGCCAGCCCACCACTGCTTGGTGG , CM000677.2:g.89329157_89329186delinsCTGTGGGGCCAGCCCACCACTGCTTGGTGG GRCh38
NC_000015.9:g.89872388_89872417delinsCTGTGGGGCCAGCCCACCACTGCTTGGTGG , CM000677.1:g.89872388_89872417delinsCTGTGGGGCCAGCCCACCACTGCTTGGTGG GRCh37
NC_000015.8:g.87673392_87673421delinsCTGTGGGGCCAGCCCACCACTGCTTGGTGG NCBI36
NG_008218.1:g.10610_10639delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG
NG_008218.2:g.10610_10639delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG ENSP00000516154.1:n.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGG...
ENST00000268124.11:c.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG MANE Select ENSP00000268124.5:n.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGG...
ENST00000530292.3:c.457-76_457-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG ENSP00000432885.2:n.457-76_457-47delinsCCACCAAGCAGTGGTGGGCTGG...
ENST00000635986.2:c.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG ENSP00000490653.2:n.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGG...
ENST00000636774.1:c.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG ENSP00000489799.1:n.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGG...
ENST00000666746.1:c.513-76_513-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG
ENST00000672071.1:n.1054-76_1054-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG
ENST00000268124.9:c.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG ENSP00000268124.5:n.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGG...
ENST00000442287.6:c.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG ENSP00000399851.2:n.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGG...
ENST00000631044.2:c.*239-76_*239-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG ENSP00000486730.1:n.*239-76_*239-47delinsCCACCAAGCAGTGGTGGGCT...
NM_001126131.1:c.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG NP_001119603.1:n.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCC...
NM_002693.2:c.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG NP_002684.1:n.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCAC...
NM_001126131.2:c.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG NP_001119603.1:n.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCC...
NM_002693.3:c.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCACAG MANE Select NP_002684.1:n.856-76_856-47delinsCCACCAAGCAGTGGTGGGCTGGCCCCAC...