Canonical Allele Identifier: CA2843304774
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333409del , CM000677.2:g.89333409del GRCh38
NC_000015.9:g.89876640del , CM000677.1:g.89876640del GRCh37
NC_000015.8:g.87677644del NCBI36
NG_008218.1:g.6388del
NG_008218.2:g.6388del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.347del (POLG) ENSP00000516154.1:p.Pro116GlnfsTer?
ENST00000706918.1:c.402del (POLGARF) ENSP00000516626.1:p.Ser135AlafsTer?
ENST00000268124.11:c.347del (POLG) MANE Select ENSP00000268124.5:p.Pro116GlnfsTer?
ENST00000635986.2:c.347del (POLG) ENSP00000490653.2:p.Pro116GlnfsTer?
ENST00000636774.1:c.347del (POLG) ENSP00000489799.1:p.Pro116GlnfsTer?
ENST00000650303.2:c.402del (POLG) ENSP00000497242.2:p.Ser135AlafsTer?
ENST00000666746.1:c.4del (POLG)
ENST00000672071.1:n.545del (POLG)
ENST00000268124.9:c.347del (POLG) ENSP00000268124.5:p.Pro116GlnfsTer?
ENST00000442287.6:c.347del (POLG) ENSP00000399851.2:p.Pro116GlnfsTer?
ENST00000631044.2:c.347del (POLG) ENSP00000486730.1:p.Pro116GlnfsTer?
NM_001126131.1:c.347del (POLG) NP_001119603.1:p.Pro116GlnfsTer?
NM_002693.2:c.347del (POLG) NP_002684.1:p.Pro116GlnfsTer?
NM_001126131.2:c.347del (POLG) NP_001119603.1:p.Pro116GlnfsTer?
NM_002693.3:c.347del (POLG) MANE Select NP_002684.1:p.Pro116GlnfsTer?