Canonical Allele Identifier: CA2839189827
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333131dup , CM000677.2:g.89333131dup GRCh38
NC_000015.9:g.89876362dup , CM000677.1:g.89876362dup GRCh37
NC_000015.8:g.87677366dup NCBI36
NG_008218.1:g.6668dup
NG_008218.2:g.6668dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.627dup (POLG) ENSP00000516154.1:p.Thr210HisfsTer?
ENST00000706918.1:c.682dup (POLGARF) ENSP00000516626.1:p.His228ProfsTer?
ENST00000268124.11:c.627dup (POLG) MANE Select ENSP00000268124.5:p.Thr210HisfsTer?
ENST00000530292.3:c.228dup (POLG) ENSP00000432885.2:p.Thr77HisfsTer?
ENST00000635986.2:c.627dup (POLG) ENSP00000490653.2:p.Thr210HisfsTer?
ENST00000636774.1:c.627dup (POLG) ENSP00000489799.1:p.Thr210HisfsTer?
ENST00000637307.1:c.17dup (POLG)
ENST00000650303.2:c.682dup (POLG) ENSP00000497242.2:p.His228ProfsTer?
ENST00000666746.1:c.284dup (POLG)
ENST00000672071.1:n.825dup (POLG)
ENST00000268124.9:c.627dup (POLG) ENSP00000268124.5:p.Thr210HisfsTer?
ENST00000442287.6:c.627dup (POLG) ENSP00000399851.2:p.Thr210HisfsTer?
ENST00000631044.2:c.627dup (POLG) ENSP00000486730.1:p.Thr210HisfsTer13
NM_001126131.1:c.627dup (POLG) NP_001119603.1:p.Thr210HisfsTer?
NM_002693.2:c.627dup (POLG) NP_002684.1:p.Thr210HisfsTer?
NM_001126131.2:c.627dup (POLG) NP_001119603.1:p.Thr210HisfsTer?
NM_002693.3:c.627dup (POLG) MANE Select NP_002684.1:p.Thr210HisfsTer?