Canonical Allele Identifier: CA2999041520

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323336_89323337insCTC , CM000677.2:g.89323336_89323337insCTC	GRCh38
NC_000015.9:g.89866567_89866568insCTC , CM000677.1:g.89866567_89866568insCTC	GRCh37
NC_000015.8:g.87667571_87667572insCTC	NCBI36
NG_008218.1:g.16459_16460insGAG
NG_008218.2:g.16459_16460insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2265+67_2265+68insGAG	ENSP00000516154.1:n.2265+67_2265+68insGAG
ENST00000268124.11:c.2265+67_2265+68insGAG MANE Select	ENSP00000268124.5:n.2265+67_2265+68insGAG
ENST00000530292.3:c.1866+67_1866+68insGAG	ENSP00000432885.2:n.1866+67_1866+68insGAG
ENST00000635986.2:c.2265+67_2265+68insGAG	ENSP00000490653.2:n.2265+67_2265+68insGAG
ENST00000636774.1:c.*832+67_*832+68insGAG	ENSP00000489799.1:n.*832+67_*832+68insGAG
ENST00000637238.1:c.962+67_962+68insGAG	ENSP00000490756.1:n.962+67_962+68insGAG
ENST00000637264.1:c.1337+67_1337+68insGAG
ENST00000666746.1:c.1842+67_1842+68insGAG
ENST00000670281.1:c.585+67_585+68insGAG	ENSP00000499709.1:n.585+67_585+68insGAG
ENST00000672071.1:n.2463+67_2463+68insGAG
ENST00000672923.2:n.2368+67_2368+68insGAG
ENST00000268124.9:c.2265+67_2265+68insGAG	ENSP00000268124.5:n.2265+67_2265+68insGAG
ENST00000442287.6:c.2265+67_2265+68insGAG	ENSP00000399851.2:n.2265+67_2265+68insGAG
ENST00000526314.2:c.540-435_540-434insGAG
ENST00000526398.1:c.414+67_414+68insGAG
ENST00000528881.2:c.34+67_34+68insGAG
ENST00000530715.5:c.24+67_24+68insGAG	ENSP00000431395.1:n.24+67_24+68insGAG
ENST00000532584.5:n.467+67_467+68insGAG
ENST00000631044.2:c.*1689+67_*1689+68insGAG	ENSP00000486730.1:n.*1689+67_*1689+68insGAG
NM_001126131.1:c.2265+67_2265+68insGAG	NP_001119603.1:n.2265+67_2265+68insGAG
NM_002693.2:c.2265+67_2265+68insGAG	NP_002684.1:n.2265+67_2265+68insGAG
NM_001126131.2:c.2265+67_2265+68insGAG	NP_001119603.1:n.2265+67_2265+68insGAG
NM_002693.3:c.2265+67_2265+68insGAG MANE Select	NP_002684.1:n.2265+67_2265+68insGAG