Canonical Allele Identifier: CA2194539612

Gene: POLG

Linked Data

• dbSNP Id: rs1249782262

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317543_89317546dup , CM000677.2:g.89317543_89317546dup	GRCh38
NC_000015.9:g.89860774_89860777dup , CM000677.1:g.89860774_89860777dup	GRCh37
NC_000015.8:g.87661778_87661781dup	NCBI36
NG_008218.1:g.22251_22254dup
NG_011736.1:g.78581_78584dup , LRG_500:g.78581_78584dup
NG_008218.2:g.22251_22254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-9_3483-6dup	ENSP00000516154.1:n.3483-9_3483-6dup
ENST00000268124.11:c.3483-9_3483-6dup MANE Select	ENSP00000268124.5:n.3483-9_3483-6dup
ENST00000530292.3:c.3183-9_3183-6dup	ENSP00000432885.2:n.3183-9_3183-6dup
ENST00000635986.2:c.*553-9_*553-6dup	ENSP00000490653.2:n.*553-9_*553-6dup
ENST00000636774.1:c.*2087-9_*2087-6dup	ENSP00000489799.1:n.*2087-9_*2087-6dup
ENST00000637042.1:n.72-74_72-71dup
ENST00000637238.1:c.2391-9_2391-6dup	ENSP00000490756.1:n.2391-9_2391-6dup
ENST00000637264.1:c.2555-69_2555-66dup
ENST00000666746.1:c.3060-9_3060-6dup
ENST00000672071.1:n.4676_4679dup
ENST00000672695.1:n.1262-9_1262-6dup
ENST00000672923.2:n.3483-9_3483-6dup
ENST00000268124.9:c.3483-9_3483-6dup	ENSP00000268124.5:n.3483-9_3483-6dup
ENST00000442287.6:c.3483-9_3483-6dup	ENSP00000399851.2:n.3483-9_3483-6dup
ENST00000526671.1:n.284_287dup
ENST00000530292.2:c.666-9_666-6dup	ENSP00000432885.1:n.666-9_666-6dup
ENST00000631044.2:c.*2907-9_*2907-6dup	ENSP00000486730.1:n.*2907-9_*2907-6dup
NM_001126131.1:c.3483-9_3483-6dup	NP_001119603.1:n.3483-9_3483-6dup
NM_002693.2:c.3483-9_3483-6dup	NP_002684.1:n.3483-9_3483-6dup
NM_001126131.2:c.3483-9_3483-6dup	NP_001119603.1:n.3483-9_3483-6dup
NM_002693.3:c.3483-9_3483-6dup MANE Select	NP_002684.1:n.3483-9_3483-6dup