Canonical Allele Identifier: CA7724417

Gene: POLG

Linked Data

• dbSNP Id: rs776466008
• ExAC: 15:89864968 C / CG
• gnomAD v2: 15-89864968-C-CG
• MyVariant Identifiers: chr15:g.89864968_89864969insG (hg19) ; chr15:g.89321737_89321738insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321740dup , CM000677.2:g.89321740dup	GRCh38
NC_000015.9:g.89864971dup , CM000677.1:g.89864971dup	GRCh37
NC_000015.8:g.87665975dup	NCBI36
NG_008218.1:g.18058dup
NG_008218.2:g.18058dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2596dup	ENSP00000516154.1:p.Arg866ProfsTer3
ENST00000268124.11:c.2596dup MANE Select	ENSP00000268124.5:p.Arg866ProfsTer3
ENST00000530292.3:c.2197dup	ENSP00000432885.2:p.Arg733ProfsTer3
ENST00000635986.2:c.2596dup	ENSP00000490653.2:p.Arg866ProfsTer3
ENST00000636774.1:c.*1163dup	ENSP00000489799.1:n.*1163dup
ENST00000637238.1:c.1293dup	ENSP00000490756.1:n.1293dup
ENST00000637264.1:c.1668dup
ENST00000666746.1:c.2173dup
ENST00000670281.1:c.800+224dup	ENSP00000499709.1:n.800+224dup
ENST00000672071.1:n.2794dup
ENST00000672923.2:n.2538dup
ENST00000268124.9:c.2596dup	ENSP00000268124.5:p.Arg866ProfsTer3
ENST00000442287.6:c.2596dup	ENSP00000399851.2:p.Arg866ProfsTer3
ENST00000528881.2:c.196-478dup
ENST00000530715.5:c.186-869dup	ENSP00000431395.1:n.186-869dup
ENST00000631044.2:c.*2020dup	ENSP00000486730.1:n.*2020dup
NM_001126131.1:c.2596dup	NP_001119603.1:p.Arg866ProfsTer3
NM_002693.2:c.2596dup	NP_002684.1:p.Arg866ProfsTer3
NM_001126131.2:c.2596dup	NP_001119603.1:p.Arg866ProfsTer3
NM_002693.3:c.2596dup MANE Select	NP_002684.1:p.Arg866ProfsTer3