Canonical Allele Identifier: CA2805167584

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317679_89317680insAGA , CM000677.2:g.89317679_89317680insAGA	GRCh38
NC_000015.9:g.89860910_89860911insAGA , CM000677.1:g.89860910_89860911insAGA	GRCh37
NC_000015.8:g.87661914_87661915insAGA	NCBI36
NG_008218.1:g.22116_22117insTCT
NG_011736.1:g.78717_78718insAGA , LRG_500:g.78717_78718insAGA
NG_008218.2:g.22116_22117insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-144_3483-143insTCT	ENSP00000516154.1:n.3483-144_3483-143insTCT
ENST00000268124.11:c.3483-144_3483-143insTCT MANE Select	ENSP00000268124.5:n.3483-144_3483-143insTCT
ENST00000530292.3:c.3183-144_3183-143insTCT	ENSP00000432885.2:n.3183-144_3183-143insTCT
ENST00000635986.2:c.*553-144_*553-143insTCT	ENSP00000490653.2:n.*553-144_*553-143insTCT
ENST00000636774.1:c.*2087-144_*2087-143insTCT	ENSP00000489799.1:n.*2087-144_*2087-143insTCT
ENST00000637042.1:n.72-209_72-208insTCT
ENST00000637238.1:c.2391-144_2391-143insTCT	ENSP00000490756.1:n.2391-144_2391-143insTCT
ENST00000637264.1:c.2555-204_2555-203insTCT
ENST00000666746.1:c.3060-144_3060-143insTCT
ENST00000672071.1:n.4541_4542insTCT
ENST00000672695.1:n.1262-144_1262-143insTCT
ENST00000672923.2:n.3483-144_3483-143insTCT
ENST00000268124.9:c.3483-144_3483-143insTCT	ENSP00000268124.5:n.3483-144_3483-143insTCT
ENST00000442287.6:c.3483-144_3483-143insTCT	ENSP00000399851.2:n.3483-144_3483-143insTCT
ENST00000526671.1:n.149_150insTCT
ENST00000530292.2:c.666-144_666-143insTCT	ENSP00000432885.1:n.666-144_666-143insTCT
ENST00000631044.2:c.*2907-144_*2907-143insTCT	ENSP00000486730.1:n.*2907-144_*2907-143insTCT
NM_001126131.1:c.3483-144_3483-143insTCT	NP_001119603.1:n.3483-144_3483-143insTCT
NM_002693.2:c.3483-144_3483-143insTCT	NP_002684.1:n.3483-144_3483-143insTCT
NM_001126131.2:c.3483-144_3483-143insTCT	NP_001119603.1:n.3483-144_3483-143insTCT
NM_002693.3:c.3483-144_3483-143insTCT MANE Select	NP_002684.1:n.3483-144_3483-143insTCT