Canonical Allele Identifier: CA2194566407

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325257_89325286delinsAGTGAGTGAGTGAGTGAGAGAGAGAGAAAG , CM000677.2:g.89325257_89325286delinsAGTGAGTGAGTGAGTGAGAGAGAGAGAAAG	GRCh38
NC_000015.9:g.89868488_89868517delinsAGTGAGTGAGTGAGTGAGAGAGAGAGAAAG , CM000677.1:g.89868488_89868517delinsAGTGAGTGAGTGAGTGAGAGAGAGAGAAAG	GRCh37
NC_000015.8:g.87669492_87669521delinsAGTGAGTGAGTGAGTGAGAGAGAGAGAAAG	NCBI36
NG_008218.1:g.14510_14539delinsCTTTCTCTCTCTCTCACTCACTCACTCACT
NG_008218.2:g.14510_14539delinsCTTTCTCTCTCTCTCACTCACTCACTCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	ENSP00000516154.1:n.1949+164_1949+193delinsCTTTCTCTCTCTCTCACT...
ENST00000268124.11:c.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT MANE Select	ENSP00000268124.5:n.1949+164_1949+193delinsCTTTCTCTCTCTCTCACT...
ENST00000530292.3:c.1550+164_1550+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	ENSP00000432885.2:n.1550+164_1550+193delinsCTTTCTCTCTCTCTCACT...
ENST00000635986.2:c.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	ENSP00000490653.2:n.1949+164_1949+193delinsCTTTCTCTCTCTCTCACT...
ENST00000636774.1:c.*516+164_*516+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	ENSP00000489799.1:n.*516+164_*516+193delinsCTTTCTCTCTCTCTCACT...
ENST00000637238.1:c.646+204_646+233delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	ENSP00000490756.1:n.646+204_646+233delinsCTTTCTCTCTCTCTCACTCA...
ENST00000637264.1:c.1021+164_1021+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT
ENST00000666746.1:c.1526+164_1526+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT
ENST00000670281.1:c.269+164_269+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	ENSP00000499709.1:n.269+164_269+193delinsCTTTCTCTCTCTCTCACTCA...
ENST00000672071.1:n.2147+164_2147+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT
ENST00000672923.2:n.2052+164_2052+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT
ENST00000268124.9:c.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	ENSP00000268124.5:n.1949+164_1949+193delinsCTTTCTCTCTCTCTCACT...
ENST00000442287.6:c.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	ENSP00000399851.2:n.1949+164_1949+193delinsCTTTCTCTCTCTCTCACT...
ENST00000526314.2:c.331+164_331+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT
ENST00000526398.1:c.138+164_138+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT
ENST00000526573.1:n.35+164_35+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT
ENST00000532584.5:n.151+164_151+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT
ENST00000631044.2:c.*1332+164_*1332+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	ENSP00000486730.1:n.*1332+164_*1332+193delinsCTTTCTCTCTCTCTCA...
NM_001126131.1:c.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	NP_001119603.1:n.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCAC...
NM_002693.2:c.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	NP_002684.1:n.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCACTCA...
NM_001126131.2:c.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT	NP_001119603.1:n.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCAC...
NM_002693.3:c.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCACTCACTCACT MANE Select	NP_002684.1:n.1949+164_1949+193delinsCTTTCTCTCTCTCTCACTCACTCA...