Canonical Allele Identifier: CA2499223142

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 1235939
• ClinVar RCV Id: RCV001619537
• dbSNP Id: rs2141815990

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333603_89333604insCTGCTG , CM000677.2:g.89333603_89333604insCTGCTG	GRCh38
NC_000015.9:g.89876834_89876835insCTGCTG , CM000677.1:g.89876834_89876835insCTGCTG	GRCh37
NC_000015.8:g.87677838_87677839insCTGCTG	NCBI36
NG_008218.1:g.6192_6193insCAGCAG
NG_008218.2:g.6192_6193insCAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.151_152insCAGCAG (POLG)	ENSP00000516154.1:p.Gln51delinsProAlaGlu
ENST00000706918.1:c.206_207insCAGCAG (POLGARF)	ENSP00000516626.1:p.Ala69_Ala70insSerArg
ENST00000268124.11:c.151_152insCAGCAG (POLG) MANE Select	ENSP00000268124.5:p.Gln51delinsProAlaGlu
ENST00000635986.2:c.151_152insCAGCAG (POLG)	ENSP00000490653.2:p.Gln51delinsProAlaGlu
ENST00000636774.1:c.151_152insCAGCAG (POLG)	ENSP00000489799.1:p.Gln51delinsProAlaGlu
ENST00000650303.2:c.206_207insCAGCAG (POLG)	ENSP00000497242.2:p.Ala69_Ala70insSerArg
ENST00000672071.1:n.349_350insCAGCAG (POLG)
ENST00000268124.9:c.151_152insCAGCAG (POLG)	ENSP00000268124.5:p.Gln51delinsProAlaGlu
ENST00000442287.6:c.151_152insCAGCAG (POLG)	ENSP00000399851.2:p.Gln51delinsProAlaGlu
ENST00000631044.2:c.151_152insCAGCAG (POLG)	ENSP00000486730.1:p.Gln51delinsProAlaGlu
NM_001126131.1:c.151_152insCAGCAG (POLG)	NP_001119603.1:p.Gln51delinsProAlaGlu
NM_002693.2:c.151_152insCAGCAG (POLG)	NP_002684.1:p.Gln51delinsProAlaGlu
NM_001126131.2:c.151_152insCAGCAG (POLG)	NP_001119603.1:p.Gln51delinsProAlaGlu
NM_002693.3:c.151_152insCAGCAG (POLG) MANE Select	NP_002684.1:p.Gln51delinsProAlaGlu