Canonical Allele Identifier: CA2194562497

Gene: POLG

Linked Data

• dbSNP Id: rs2055559437

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328951_89328952insG , CM000677.2:g.89328951_89328952insG	GRCh38
NC_000015.9:g.89872182_89872183insG , CM000677.1:g.89872182_89872183insG	GRCh37
NC_000015.8:g.87673186_87673187insG	NCBI36
NG_008218.1:g.10844_10845insC
NG_008218.2:g.10844_10845insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1014_1015insC	ENSP00000516154.1:p.Gly339ArgfsTer?
ENST00000268124.11:c.1014_1015insC MANE Select	ENSP00000268124.5:p.Gly339ArgfsTer?
ENST00000530292.3:c.615_616insC	ENSP00000432885.2:p.Gly206ArgfsTer?
ENST00000635986.2:c.1014_1015insC	ENSP00000490653.2:p.Gly339ArgfsTer?
ENST00000636774.1:c.1014_1015insC	ENSP00000489799.1:p.Gly339ArgfsTer?
ENST00000637264.1:c.86_87insC
ENST00000666746.1:c.671_672insC
ENST00000672071.1:n.1212_1213insC
ENST00000672923.2:n.11_12insC
ENST00000268124.9:c.1014_1015insC	ENSP00000268124.5:p.Gly339ArgfsTer?
ENST00000442287.6:c.1014_1015insC	ENSP00000399851.2:p.Gly339ArgfsTer?
ENST00000631044.2:c.*397_*398insC	ENSP00000486730.1:n.*397_*398insC
NM_001126131.1:c.1014_1015insC	NP_001119603.1:p.Gly339ArgfsTer?
NM_002693.2:c.1014_1015insC	NP_002684.1:p.Gly339ArgfsTer?
NM_001126131.2:c.1014_1015insC	NP_001119603.1:p.Gly339ArgfsTer?
NM_002693.3:c.1014_1015insC MANE Select	NP_002684.1:p.Gly339ArgfsTer?