Canonical Allele Identifier: CA2194549740

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321531_89321533delinsCGG , CM000677.2:g.89321531_89321533delinsCGG	GRCh38
NC_000015.9:g.89864762_89864764delinsCGG , CM000677.1:g.89864762_89864764delinsCGG	GRCh37
NC_000015.8:g.87665766_87665768delinsCGG	NCBI36
NG_008218.1:g.18263_18265delinsCCG
NG_008218.2:g.18263_18265delinsCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2598+203_2598+205delinsCCG	ENSP00000516154.1:n.2598+203_2598+205delinsCCG
ENST00000268124.11:c.2598+203_2598+205delinsCCG MANE Select	ENSP00000268124.5:n.2598+203_2598+205delinsCCG
ENST00000530292.3:c.2199+203_2199+205delinsCCG	ENSP00000432885.2:n.2199+203_2199+205delinsCCG
ENST00000635986.2:c.2598+203_2598+205delinsCCG	ENSP00000490653.2:n.2598+203_2598+205delinsCCG
ENST00000636774.1:c.*1165+203_*1165+205delinsCCG	ENSP00000489799.1:n.*1165+203_*1165+205delinsCCG
ENST00000637238.1:c.1295+203_1295+205delinsCCG	ENSP00000490756.1:n.1295+203_1295+205delinsCCG
ENST00000637264.1:c.1670+203_1670+205delinsCCG
ENST00000666746.1:c.2175+203_2175+205delinsCCG
ENST00000670281.1:c.800+429_800+431delinsCCG	ENSP00000499709.1:n.800+429_800+431delinsCCG
ENST00000672071.1:n.2796+203_2796+205delinsCCG
ENST00000672923.2:n.2540+203_2540+205delinsCCG
ENST00000268124.9:c.2598+203_2598+205delinsCCG	ENSP00000268124.5:n.2598+203_2598+205delinsCCG
ENST00000442287.6:c.2598+203_2598+205delinsCCG	ENSP00000399851.2:n.2598+203_2598+205delinsCCG
ENST00000528881.2:c.196-273_196-271delinsCCG
ENST00000530715.5:c.186-664_186-662delinsCCG	ENSP00000431395.1:n.186-664_186-662delinsCCG
ENST00000631044.2:c.*2022+203_*2022+205delinsCCG	ENSP00000486730.1:n.*2022+203_*2022+205delinsCCG
NM_001126131.1:c.2598+203_2598+205delinsCCG	NP_001119603.1:n.2598+203_2598+205delinsCCG
NM_002693.2:c.2598+203_2598+205delinsCCG	NP_002684.1:n.2598+203_2598+205delinsCCG
NM_001126131.2:c.2598+203_2598+205delinsCCG	NP_001119603.1:n.2598+203_2598+205delinsCCG
NM_002693.3:c.2598+203_2598+205delinsCCG MANE Select	NP_002684.1:n.2598+203_2598+205delinsCCG