Canonical Allele Identifier: CA2194563004
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329114_89329116delinsAGG , CM000677.2:g.89329114_89329116delinsAGG GRCh38
NC_000015.9:g.89872345_89872347delinsAGG , CM000677.1:g.89872345_89872347delinsAGG GRCh37
NC_000015.8:g.87673349_87673351delinsAGG NCBI36
NG_008218.1:g.10680_10682delinsCCT
NG_008218.2:g.10680_10682delinsCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.856-6_856-4delinsCCT ENSP00000516154.1:n.856-6_856-4delinsCCT
ENST00000268124.11:c.856-6_856-4delinsCCT MANE Select ENSP00000268124.5:n.856-6_856-4delinsCCT
ENST00000530292.3:c.457-6_457-4delinsCCT ENSP00000432885.2:n.457-6_457-4delinsCCT
ENST00000635986.2:c.856-6_856-4delinsCCT ENSP00000490653.2:n.856-6_856-4delinsCCT
ENST00000636774.1:c.856-6_856-4delinsCCT ENSP00000489799.1:n.856-6_856-4delinsCCT
ENST00000666746.1:c.513-6_513-4delinsCCT
ENST00000672071.1:n.1054-6_1054-4delinsCCT
ENST00000268124.9:c.856-6_856-4delinsCCT ENSP00000268124.5:n.856-6_856-4delinsCCT
ENST00000442287.6:c.856-6_856-4delinsCCT ENSP00000399851.2:n.856-6_856-4delinsCCT
ENST00000631044.2:c.*239-6_*239-4delinsCCT ENSP00000486730.1:n.*239-6_*239-4delinsCCT
NM_001126131.1:c.856-6_856-4delinsCCT NP_001119603.1:n.856-6_856-4delinsCCT
NM_002693.2:c.856-6_856-4delinsCCT NP_002684.1:n.856-6_856-4delinsCCT
NM_001126131.2:c.856-6_856-4delinsCCT NP_001119603.1:n.856-6_856-4delinsCCT
NM_002693.3:c.856-6_856-4delinsCCT MANE Select NP_002684.1:n.856-6_856-4delinsCCT