Canonical Allele Identifier: CA2805167533

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317587_89317588insAGA , CM000677.2:g.89317587_89317588insAGA	GRCh38
NC_000015.9:g.89860818_89860819insAGA , CM000677.1:g.89860818_89860819insAGA	GRCh37
NC_000015.8:g.87661822_87661823insAGA	NCBI36
NG_008218.1:g.22208_22209insTCT
NG_011736.1:g.78625_78626insAGA , LRG_500:g.78625_78626insAGA
NG_008218.2:g.22208_22209insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-52_3483-51insTCT	ENSP00000516154.1:n.3483-52_3483-51insTCT
ENST00000268124.11:c.3483-52_3483-51insTCT MANE Select	ENSP00000268124.5:n.3483-52_3483-51insTCT
ENST00000530292.3:c.3183-52_3183-51insTCT	ENSP00000432885.2:n.3183-52_3183-51insTCT
ENST00000635986.2:c.*553-52_*553-51insTCT	ENSP00000490653.2:n.*553-52_*553-51insTCT
ENST00000636774.1:c.*2087-52_*2087-51insTCT	ENSP00000489799.1:n.*2087-52_*2087-51insTCT
ENST00000637042.1:n.72-117_72-116insTCT
ENST00000637238.1:c.2391-52_2391-51insTCT	ENSP00000490756.1:n.2391-52_2391-51insTCT
ENST00000637264.1:c.2555-112_2555-111insTCT
ENST00000666746.1:c.3060-52_3060-51insTCT
ENST00000672071.1:n.4633_4634insTCT
ENST00000672695.1:n.1262-52_1262-51insTCT
ENST00000672923.2:n.3483-52_3483-51insTCT
ENST00000268124.9:c.3483-52_3483-51insTCT	ENSP00000268124.5:n.3483-52_3483-51insTCT
ENST00000442287.6:c.3483-52_3483-51insTCT	ENSP00000399851.2:n.3483-52_3483-51insTCT
ENST00000526671.1:n.241_242insTCT
ENST00000530292.2:c.666-52_666-51insTCT	ENSP00000432885.1:n.666-52_666-51insTCT
ENST00000631044.2:c.*2907-52_*2907-51insTCT	ENSP00000486730.1:n.*2907-52_*2907-51insTCT
NM_001126131.1:c.3483-52_3483-51insTCT	NP_001119603.1:n.3483-52_3483-51insTCT
NM_002693.2:c.3483-52_3483-51insTCT	NP_002684.1:n.3483-52_3483-51insTCT
NM_001126131.2:c.3483-52_3483-51insTCT	NP_001119603.1:n.3483-52_3483-51insTCT
NM_002693.3:c.3483-52_3483-51insTCT MANE Select	NP_002684.1:n.3483-52_3483-51insTCT