Canonical Allele Identifier: CA2194549511

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325367_89325371delinsCTCTT , CM000677.2:g.89325367_89325371delinsCTCTT	GRCh38
NC_000015.9:g.89868598_89868602delinsCTCTT , CM000677.1:g.89868598_89868602delinsCTCTT	GRCh37
NC_000015.8:g.87669602_87669606delinsCTCTT	NCBI36
NG_008218.1:g.14425_14429delinsAAGAG
NG_008218.2:g.14425_14429delinsAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+79_1949+83delinsAAGAG	ENSP00000516154.1:n.1949+79_1949+83delinsAAGAG
ENST00000268124.11:c.1949+79_1949+83delinsAAGAG MANE Select	ENSP00000268124.5:n.1949+79_1949+83delinsAAGAG
ENST00000530292.3:c.1550+79_1550+83delinsAAGAG	ENSP00000432885.2:n.1550+79_1550+83delinsAAGAG
ENST00000635986.2:c.1949+79_1949+83delinsAAGAG	ENSP00000490653.2:n.1949+79_1949+83delinsAAGAG
ENST00000636774.1:c.*516+79_*516+83delinsAAGAG	ENSP00000489799.1:n.*516+79_*516+83delinsAAGAG
ENST00000637238.1:c.646+119_646+123delinsAAGAG	ENSP00000490756.1:n.646+119_646+123delinsAAGAG
ENST00000637264.1:c.1021+79_1021+83delinsAAGAG
ENST00000666746.1:c.1526+79_1526+83delinsAAGAG
ENST00000670281.1:c.269+79_269+83delinsAAGAG	ENSP00000499709.1:n.269+79_269+83delinsAAGAG
ENST00000672071.1:n.2147+79_2147+83delinsAAGAG
ENST00000672923.2:n.2052+79_2052+83delinsAAGAG
ENST00000268124.9:c.1949+79_1949+83delinsAAGAG	ENSP00000268124.5:n.1949+79_1949+83delinsAAGAG
ENST00000442287.6:c.1949+79_1949+83delinsAAGAG	ENSP00000399851.2:n.1949+79_1949+83delinsAAGAG
ENST00000526314.2:c.331+79_331+83delinsAAGAG
ENST00000526398.1:c.138+79_138+83delinsAAGAG
ENST00000526573.1:n.35+79_35+83delinsAAGAG
ENST00000532584.5:n.151+79_151+83delinsAAGAG
ENST00000631044.2:c.*1332+79_*1332+83delinsAAGAG	ENSP00000486730.1:n.*1332+79_*1332+83delinsAAGAG
NM_001126131.1:c.1949+79_1949+83delinsAAGAG	NP_001119603.1:n.1949+79_1949+83delinsAAGAG
NM_002693.2:c.1949+79_1949+83delinsAAGAG	NP_002684.1:n.1949+79_1949+83delinsAAGAG
NM_001126131.2:c.1949+79_1949+83delinsAAGAG	NP_001119603.1:n.1949+79_1949+83delinsAAGAG
NM_002693.3:c.1949+79_1949+83delinsAAGAG MANE Select	NP_002684.1:n.1949+79_1949+83delinsAAGAG