Canonical Allele Identifier: CA2194549647

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321495_89321502delinsTAAATTCC , CM000677.2:g.89321495_89321502delinsTAAATTCC	GRCh38
NC_000015.9:g.89864726_89864733delinsTAAATTCC , CM000677.1:g.89864726_89864733delinsTAAATTCC	GRCh37
NC_000015.8:g.87665730_87665737delinsTAAATTCC	NCBI36
NG_008218.1:g.18294_18301delinsGGAATTTA
NG_008218.2:g.18294_18301delinsGGAATTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2598+234_2599-235delinsGGAATTTA	ENSP00000516154.1:n.2598+234_2599-235delinsGGAATTTA
ENST00000268124.11:c.2598+234_2599-235delinsGGAATTTA MANE Select	ENSP00000268124.5:n.2598+234_2599-235delinsGGAATTTA
ENST00000530292.3:c.2199+234_2200-235delinsGGAATTTA	ENSP00000432885.2:n.2199+234_2200-235delinsGGAATTTA
ENST00000635986.2:c.2598+234_2599-235delinsGGAATTTA	ENSP00000490653.2:n.2598+234_2599-235delinsGGAATTTA
ENST00000636774.1:c.*1165+234_*1166-235delinsGGAATTTA	ENSP00000489799.1:n.*1165+234_*1166-235delinsGGAATTTA
ENST00000637238.1:c.1295+234_1296-235delinsGGAATTTA	ENSP00000490756.1:n.1295+234_1296-235delinsGGAATTTA
ENST00000637264.1:c.1670+234_1671-235delinsGGAATTTA
ENST00000666746.1:c.2175+234_2176-235delinsGGAATTTA
ENST00000670281.1:c.800+460_800+467delinsGGAATTTA	ENSP00000499709.1:n.800+460_800+467delinsGGAATTTA
ENST00000672071.1:n.2796+234_2797-235delinsGGAATTTA
ENST00000672923.2:n.2540+234_2541-235delinsGGAATTTA
ENST00000268124.9:c.2598+234_2599-235delinsGGAATTTA	ENSP00000268124.5:n.2598+234_2599-235delinsGGAATTTA
ENST00000442287.6:c.2598+234_2599-235delinsGGAATTTA	ENSP00000399851.2:n.2598+234_2599-235delinsGGAATTTA
ENST00000528881.2:c.196-242_196-235delinsGGAATTTA
ENST00000530715.5:c.186-633_186-626delinsGGAATTTA	ENSP00000431395.1:n.186-633_186-626delinsGGAATTTA
ENST00000631044.2:c.*2022+234_*2023-235delinsGGAATTTA	ENSP00000486730.1:n.*2022+234_*2023-235delinsGGAATTTA
NM_001126131.1:c.2598+234_2599-235delinsGGAATTTA	NP_001119603.1:n.2598+234_2599-235delinsGGAATTTA
NM_002693.2:c.2598+234_2599-235delinsGGAATTTA	NP_002684.1:n.2598+234_2599-235delinsGGAATTTA
NM_001126131.2:c.2598+234_2599-235delinsGGAATTTA	NP_001119603.1:n.2598+234_2599-235delinsGGAATTTA
NM_002693.3:c.2598+234_2599-235delinsGGAATTTA MANE Select	NP_002684.1:n.2598+234_2599-235delinsGGAATTTA