Canonical Allele Identifier: CA2695221086

Gene: POLG

Linked Data

• ClinVar Variation Id: 3233457
• ClinVar RCV Id: RCV004526307

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325634_89325639delinsTGCCCA , CM000677.2:g.89325634_89325639delinsTGCCCA	GRCh38
NC_000015.9:g.89868865_89868870delinsTGCCCA , CM000677.1:g.89868865_89868870delinsTGCCCA	GRCh37
NC_000015.8:g.87669869_87669874delinsTGCCCA	NCBI36
NG_008218.1:g.14157_14162delinsTGGGCA
NG_008218.2:g.14157_14162delinsTGGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1760_1765delinsTGGGCA	ENSP00000516154.1:p.Pro587_Pro589delinsLeuGlyThr
ENST00000268124.11:c.1760_1765delinsTGGGCA MANE Select	ENSP00000268124.5:p.Pro587_Pro589delinsLeuGlyThr
ENST00000530292.3:c.1361_1366delinsTGGGCA	ENSP00000432885.2:p.Pro454_Pro456delinsLeuGlyThr
ENST00000635986.2:c.1760_1765delinsTGGGCA	ENSP00000490653.2:p.Pro587_Pro589delinsLeuGlyThr
ENST00000636774.1:c.*327_*332delinsTGGGCA	ENSP00000489799.1:n.*327_*332delinsTGGGCA
ENST00000637238.1:c.497_502delinsTGGGCA	ENSP00000490756.1:p.Pro166_Pro168delinsLeuGlyThr
ENST00000637264.1:c.832_837delinsTGGGCA
ENST00000666746.1:c.1337_1342delinsTGGGCA
ENST00000670281.1:c.80_85delinsTGGGCA	ENSP00000499709.1:p.Pro27_Pro29delinsLeuGlyThr
ENST00000672071.1:n.1958_1963delinsTGGGCA
ENST00000672923.2:n.1863_1868delinsTGGGCA
ENST00000268124.9:c.1760_1765delinsTGGGCA	ENSP00000268124.5:p.Pro587_Pro589delinsLeuGlyThr
ENST00000442287.6:c.1760_1765delinsTGGGCA	ENSP00000399851.2:p.Pro587_Pro589delinsLeuGlyThr
ENST00000526314.2:c.142_147delinsTGGGCA
ENST00000631044.2:c.*1143_*1148delinsTGGGCA	ENSP00000486730.1:n.*1143_*1148delinsTGGGCA
NM_001126131.1:c.1760_1765delinsTGGGCA	NP_001119603.1:p.Pro587_Pro589delinsLeuGlyThr
NM_002693.2:c.1760_1765delinsTGGGCA	NP_002684.1:p.Pro587_Pro589delinsLeuGlyThr
NM_001126131.2:c.1760_1765delinsTGGGCA	NP_001119603.1:p.Pro587_Pro589delinsLeuGlyThr
NM_002693.3:c.1760_1765delinsTGGGCA MANE Select	NP_002684.1:p.Pro587_Pro589delinsLeuGlyThr