Canonical Allele Identifier: CA2194548696

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325267_89325277delinsTGAGTGAGAGA , CM000677.2:g.89325267_89325277delinsTGAGTGAGAGA	GRCh38
NC_000015.9:g.89868498_89868508delinsTGAGTGAGAGA , CM000677.1:g.89868498_89868508delinsTGAGTGAGAGA	GRCh37
NC_000015.8:g.87669502_87669512delinsTGAGTGAGAGA	NCBI36
NG_008218.1:g.14519_14529delinsTCTCTCACTCA
NG_008218.2:g.14519_14529delinsTCTCTCACTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+173_1949+183delinsTCTCTCACTCA	ENSP00000516154.1:n.1949+173_1949+183delinsTCTCTCACTCA
ENST00000268124.11:c.1949+173_1949+183delinsTCTCTCACTCA MANE Select	ENSP00000268124.5:n.1949+173_1949+183delinsTCTCTCACTCA
ENST00000530292.3:c.1550+173_1550+183delinsTCTCTCACTCA	ENSP00000432885.2:n.1550+173_1550+183delinsTCTCTCACTCA
ENST00000635986.2:c.1949+173_1949+183delinsTCTCTCACTCA	ENSP00000490653.2:n.1949+173_1949+183delinsTCTCTCACTCA
ENST00000636774.1:c.*516+173_*516+183delinsTCTCTCACTCA	ENSP00000489799.1:n.*516+173_*516+183delinsTCTCTCACTCA
ENST00000637238.1:c.646+213_646+223delinsTCTCTCACTCA	ENSP00000490756.1:n.646+213_646+223delinsTCTCTCACTCA
ENST00000637264.1:c.1021+173_1021+183delinsTCTCTCACTCA
ENST00000666746.1:c.1526+173_1526+183delinsTCTCTCACTCA
ENST00000670281.1:c.269+173_269+183delinsTCTCTCACTCA	ENSP00000499709.1:n.269+173_269+183delinsTCTCTCACTCA
ENST00000672071.1:n.2147+173_2147+183delinsTCTCTCACTCA
ENST00000672923.2:n.2052+173_2052+183delinsTCTCTCACTCA
ENST00000268124.9:c.1949+173_1949+183delinsTCTCTCACTCA	ENSP00000268124.5:n.1949+173_1949+183delinsTCTCTCACTCA
ENST00000442287.6:c.1949+173_1949+183delinsTCTCTCACTCA	ENSP00000399851.2:n.1949+173_1949+183delinsTCTCTCACTCA
ENST00000526314.2:c.331+173_331+183delinsTCTCTCACTCA
ENST00000526398.1:c.138+173_138+183delinsTCTCTCACTCA
ENST00000526573.1:n.35+173_35+183delinsTCTCTCACTCA
ENST00000532584.5:n.151+173_151+183delinsTCTCTCACTCA
ENST00000631044.2:c.*1332+173_*1332+183delinsTCTCTCACTCA	ENSP00000486730.1:n.*1332+173_*1332+183delinsTCTCTCACTCA
NM_001126131.1:c.1949+173_1949+183delinsTCTCTCACTCA	NP_001119603.1:n.1949+173_1949+183delinsTCTCTCACTCA
NM_002693.2:c.1949+173_1949+183delinsTCTCTCACTCA	NP_002684.1:n.1949+173_1949+183delinsTCTCTCACTCA
NM_001126131.2:c.1949+173_1949+183delinsTCTCTCACTCA	NP_001119603.1:n.1949+173_1949+183delinsTCTCTCACTCA
NM_002693.3:c.1949+173_1949+183delinsTCTCTCACTCA MANE Select	NP_002684.1:n.1949+173_1949+183delinsTCTCTCACTCA