Canonical Allele Identifier: CA2194548655

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325266_89325284delinsGTGAGTGAGAGAGAGAGAA , CM000677.2:g.89325266_89325284delinsGTGAGTGAGAGAGAGAGAA	GRCh38
NC_000015.9:g.89868497_89868515delinsGTGAGTGAGAGAGAGAGAA , CM000677.1:g.89868497_89868515delinsGTGAGTGAGAGAGAGAGAA	GRCh37
NC_000015.8:g.87669501_87669519delinsGTGAGTGAGAGAGAGAGAA	NCBI36
NG_008218.1:g.14512_14530delinsTTCTCTCTCTCTCACTCAC
NG_008218.2:g.14512_14530delinsTTCTCTCTCTCTCACTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC	ENSP00000516154.1:n.1949+166_1949+184delinsTTCTCTCTCTCTCACTCA...
ENST00000268124.11:c.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC MANE Select	ENSP00000268124.5:n.1949+166_1949+184delinsTTCTCTCTCTCTCACTCA...
ENST00000530292.3:c.1550+166_1550+184delinsTTCTCTCTCTCTCACTCAC	ENSP00000432885.2:n.1550+166_1550+184delinsTTCTCTCTCTCTCACTCA...
ENST00000635986.2:c.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC	ENSP00000490653.2:n.1949+166_1949+184delinsTTCTCTCTCTCTCACTCA...
ENST00000636774.1:c.*516+166_*516+184delinsTTCTCTCTCTCTCACTCAC	ENSP00000489799.1:n.*516+166_*516+184delinsTTCTCTCTCTCTCACTCA...
ENST00000637238.1:c.646+206_646+224delinsTTCTCTCTCTCTCACTCAC	ENSP00000490756.1:n.646+206_646+224delinsTTCTCTCTCTCTCACTCAC
ENST00000637264.1:c.1021+166_1021+184delinsTTCTCTCTCTCTCACTCAC
ENST00000666746.1:c.1526+166_1526+184delinsTTCTCTCTCTCTCACTCAC
ENST00000670281.1:c.269+166_269+184delinsTTCTCTCTCTCTCACTCAC	ENSP00000499709.1:n.269+166_269+184delinsTTCTCTCTCTCTCACTCAC
ENST00000672071.1:n.2147+166_2147+184delinsTTCTCTCTCTCTCACTCAC
ENST00000672923.2:n.2052+166_2052+184delinsTTCTCTCTCTCTCACTCAC
ENST00000268124.9:c.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC	ENSP00000268124.5:n.1949+166_1949+184delinsTTCTCTCTCTCTCACTCA...
ENST00000442287.6:c.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC	ENSP00000399851.2:n.1949+166_1949+184delinsTTCTCTCTCTCTCACTCA...
ENST00000526314.2:c.331+166_331+184delinsTTCTCTCTCTCTCACTCAC
ENST00000526398.1:c.138+166_138+184delinsTTCTCTCTCTCTCACTCAC
ENST00000526573.1:n.35+166_35+184delinsTTCTCTCTCTCTCACTCAC
ENST00000532584.5:n.151+166_151+184delinsTTCTCTCTCTCTCACTCAC
ENST00000631044.2:c.*1332+166_*1332+184delinsTTCTCTCTCTCTCACTCAC	ENSP00000486730.1:n.*1332+166_*1332+184delinsTTCTCTCTCTCTCACT...
NM_001126131.1:c.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC	NP_001119603.1:n.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC
NM_002693.2:c.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC	NP_002684.1:n.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC
NM_001126131.2:c.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC	NP_001119603.1:n.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC
NM_002693.3:c.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC MANE Select	NP_002684.1:n.1949+166_1949+184delinsTTCTCTCTCTCTCACTCAC