Canonical Allele Identifier: CA2731472388

Gene: POLG POLGARF

Linked Data

• dbSNP Id: rs2141816261

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333627_89333628insTCT , CM000677.2:g.89333627_89333628insTCT	GRCh38
NC_000015.9:g.89876858_89876859insTCT , CM000677.1:g.89876858_89876859insTCT	GRCh37
NC_000015.8:g.87677862_87677863insTCT	NCBI36
NG_008218.1:g.6170_6171insAAG
NG_008218.2:g.6170_6171insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.129_130insAAG (POLG)	ENSP00000516154.1:p.Gln43_Gln44insLys
ENST00000706918.1:c.184_185insAAG (POLGARF)	ENSP00000516626.1:p.Ala61_Ala62insGlu
ENST00000268124.11:c.129_130insAAG (POLG) MANE Select	ENSP00000268124.5:p.Gln43_Gln44insLys
ENST00000635986.2:c.129_130insAAG (POLG)	ENSP00000490653.2:p.Gln43_Gln44insLys
ENST00000636774.1:c.129_130insAAG (POLG)	ENSP00000489799.1:p.Gln43_Gln44insLys
ENST00000650303.2:c.184_185insAAG (POLG)	ENSP00000497242.2:p.Ala61_Ala62insGlu
ENST00000672071.1:n.327_328insAAG (POLG)
ENST00000268124.9:c.129_130insAAG (POLG)	ENSP00000268124.5:p.Gln43_Gln44insLys
ENST00000442287.6:c.129_130insAAG (POLG)	ENSP00000399851.2:p.Gln43_Gln44insLys
ENST00000631044.2:c.129_130insAAG (POLG)	ENSP00000486730.1:p.Gln43_Gln44insLys
NM_001126131.1:c.129_130insAAG (POLG)	NP_001119603.1:p.Gln43_Gln44insLys
NM_002693.2:c.129_130insAAG (POLG)	NP_002684.1:p.Gln43_Gln44insLys
NM_001126131.2:c.129_130insAAG (POLG)	NP_001119603.1:p.Gln43_Gln44insLys
NM_002693.3:c.129_130insAAG (POLG) MANE Select	NP_002684.1:p.Gln43_Gln44insLys