Canonical Allele Identifier: CA2194549517

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325369_89325371delinsCTT , CM000677.2:g.89325369_89325371delinsCTT	GRCh38
NC_000015.9:g.89868600_89868602delinsCTT , CM000677.1:g.89868600_89868602delinsCTT	GRCh37
NC_000015.8:g.87669604_87669606delinsCTT	NCBI36
NG_008218.1:g.14425_14427delinsAAG
NG_008218.2:g.14425_14427delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+79_1949+81delinsAAG	ENSP00000516154.1:n.1949+79_1949+81delinsAAG
ENST00000268124.11:c.1949+79_1949+81delinsAAG MANE Select	ENSP00000268124.5:n.1949+79_1949+81delinsAAG
ENST00000530292.3:c.1550+79_1550+81delinsAAG	ENSP00000432885.2:n.1550+79_1550+81delinsAAG
ENST00000635986.2:c.1949+79_1949+81delinsAAG	ENSP00000490653.2:n.1949+79_1949+81delinsAAG
ENST00000636774.1:c.*516+79_*516+81delinsAAG	ENSP00000489799.1:n.*516+79_*516+81delinsAAG
ENST00000637238.1:c.646+119_646+121delinsAAG	ENSP00000490756.1:n.646+119_646+121delinsAAG
ENST00000637264.1:c.1021+79_1021+81delinsAAG
ENST00000666746.1:c.1526+79_1526+81delinsAAG
ENST00000670281.1:c.269+79_269+81delinsAAG	ENSP00000499709.1:n.269+79_269+81delinsAAG
ENST00000672071.1:n.2147+79_2147+81delinsAAG
ENST00000672923.2:n.2052+79_2052+81delinsAAG
ENST00000268124.9:c.1949+79_1949+81delinsAAG	ENSP00000268124.5:n.1949+79_1949+81delinsAAG
ENST00000442287.6:c.1949+79_1949+81delinsAAG	ENSP00000399851.2:n.1949+79_1949+81delinsAAG
ENST00000526314.2:c.331+79_331+81delinsAAG
ENST00000526398.1:c.138+79_138+81delinsAAG
ENST00000526573.1:n.35+79_35+81delinsAAG
ENST00000532584.5:n.151+79_151+81delinsAAG
ENST00000631044.2:c.*1332+79_*1332+81delinsAAG	ENSP00000486730.1:n.*1332+79_*1332+81delinsAAG
NM_001126131.1:c.1949+79_1949+81delinsAAG	NP_001119603.1:n.1949+79_1949+81delinsAAG
NM_002693.2:c.1949+79_1949+81delinsAAG	NP_002684.1:n.1949+79_1949+81delinsAAG
NM_001126131.2:c.1949+79_1949+81delinsAAG	NP_001119603.1:n.1949+79_1949+81delinsAAG
NM_002693.3:c.1949+79_1949+81delinsAAG MANE Select	NP_002684.1:n.1949+79_1949+81delinsAAG