Canonical Allele Identifier: CA2568148353

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325653_89325654insCCCTCC , CM000677.2:g.89325653_89325654insCCCTCC	GRCh38
NC_000015.9:g.89868884_89868885insCCCTCC , CM000677.1:g.89868884_89868885insCCCTCC	GRCh37
NC_000015.8:g.87669888_87669889insCCCTCC	NCBI36
NG_008218.1:g.14142_14143insGGAGGG
NG_008218.2:g.14142_14143insGGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1745_1746insGGAGGG	ENSP00000516154.1:p.Asp582delinsGluGluGly
ENST00000268124.11:c.1745_1746insGGAGGG MANE Select	ENSP00000268124.5:p.Asp582delinsGluGluGly
ENST00000530292.3:c.1346_1347insGGAGGG	ENSP00000432885.2:p.Asp449delinsGluGluGly
ENST00000635986.2:c.1745_1746insGGAGGG	ENSP00000490653.2:p.Asp582delinsGluGluGly
ENST00000636774.1:c.*312_*313insGGAGGG	ENSP00000489799.1:n.*312_*313insGGAGGG
ENST00000637238.1:c.482_483insGGAGGG	ENSP00000490756.1:p.Asp161delinsGluGluGly
ENST00000637264.1:c.817_818insGGAGGG
ENST00000666746.1:c.1322_1323insGGAGGG
ENST00000670281.1:c.65_66insGGAGGG	ENSP00000499709.1:p.Asp22delinsGluGluGly
ENST00000672071.1:n.1943_1944insGGAGGG
ENST00000672923.2:n.1848_1849insGGAGGG
ENST00000268124.9:c.1745_1746insGGAGGG	ENSP00000268124.5:p.Asp582delinsGluGluGly
ENST00000442287.6:c.1745_1746insGGAGGG	ENSP00000399851.2:p.Asp582delinsGluGluGly
ENST00000526314.2:c.127_128insGGAGGG
ENST00000631044.2:c.*1128_*1129insGGAGGG	ENSP00000486730.1:n.*1128_*1129insGGAGGG
NM_001126131.1:c.1745_1746insGGAGGG	NP_001119603.1:p.Asp582delinsGluGluGly
NM_002693.2:c.1745_1746insGGAGGG	NP_002684.1:p.Asp582delinsGluGluGly
NM_001126131.2:c.1745_1746insGGAGGG	NP_001119603.1:p.Asp582delinsGluGluGly
NM_002693.3:c.1745_1746insGGAGGG MANE Select	NP_002684.1:p.Asp582delinsGluGluGly