Canonical Allele Identifier: CA2194549675

Gene: POLG

Linked Data

• dbSNP Id: rs2055395634

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321507_89321508insGTGTAGCTGT , CM000677.2:g.89321507_89321508insGTGTAGCTGT	GRCh38
NC_000015.9:g.89864738_89864739insGTGTAGCTGT , CM000677.1:g.89864738_89864739insGTGTAGCTGT	GRCh37
NC_000015.8:g.87665742_87665743insGTGTAGCTGT	NCBI36
NG_008218.1:g.18288_18289insACAGCTACAC
NG_008218.2:g.18288_18289insACAGCTACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2598+228_2598+229insACAGCTACAC	ENSP00000516154.1:n.2598+228_2598+229insACAGCTACAC
ENST00000268124.11:c.2598+228_2598+229insACAGCTACAC MANE Select	ENSP00000268124.5:n.2598+228_2598+229insACAGCTACAC
ENST00000530292.3:c.2199+228_2199+229insACAGCTACAC	ENSP00000432885.2:n.2199+228_2199+229insACAGCTACAC
ENST00000635986.2:c.2598+228_2598+229insACAGCTACAC	ENSP00000490653.2:n.2598+228_2598+229insACAGCTACAC
ENST00000636774.1:c.*1165+228_*1165+229insACAGCTACAC	ENSP00000489799.1:n.*1165+228_*1165+229insACAGCTACAC
ENST00000637238.1:c.1295+228_1295+229insACAGCTACAC	ENSP00000490756.1:n.1295+228_1295+229insACAGCTACAC
ENST00000637264.1:c.1670+228_1670+229insACAGCTACAC
ENST00000666746.1:c.2175+228_2175+229insACAGCTACAC
ENST00000670281.1:c.800+454_800+455insACAGCTACAC	ENSP00000499709.1:n.800+454_800+455insACAGCTACAC
ENST00000672071.1:n.2796+228_2796+229insACAGCTACAC
ENST00000672923.2:n.2540+228_2540+229insACAGCTACAC
ENST00000268124.9:c.2598+228_2598+229insACAGCTACAC	ENSP00000268124.5:n.2598+228_2598+229insACAGCTACAC
ENST00000442287.6:c.2598+228_2598+229insACAGCTACAC	ENSP00000399851.2:n.2598+228_2598+229insACAGCTACAC
ENST00000528881.2:c.196-248_196-247insACAGCTACAC
ENST00000530715.5:c.186-639_186-638insACAGCTACAC	ENSP00000431395.1:n.186-639_186-638insACAGCTACAC
ENST00000631044.2:c.*2022+228_*2022+229insACAGCTACAC	ENSP00000486730.1:n.*2022+228_*2022+229insACAGCTACAC
NM_001126131.1:c.2598+228_2598+229insACAGCTACAC	NP_001119603.1:n.2598+228_2598+229insACAGCTACAC
NM_002693.2:c.2598+228_2598+229insACAGCTACAC	NP_002684.1:n.2598+228_2598+229insACAGCTACAC
NM_001126131.2:c.2598+228_2598+229insACAGCTACAC	NP_001119603.1:n.2598+228_2598+229insACAGCTACAC
NM_002693.3:c.2598+228_2598+229insACAGCTACAC MANE Select	NP_002684.1:n.2598+228_2598+229insACAGCTACAC