Canonical Allele Identifier: CA2194539833

Gene: POLG

Linked Data

• dbSNP Id: rs2055318331
• gnomAD v4: 15-89317650-C-CCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317652_89317654dup , CM000677.2:g.89317652_89317654dup	GRCh38
NC_000015.9:g.89860883_89860885dup , CM000677.1:g.89860883_89860885dup	GRCh37
NC_000015.8:g.87661887_87661889dup	NCBI36
NG_008218.1:g.22143_22145dup
NG_011736.1:g.78690_78692dup , LRG_500:g.78690_78692dup
NG_008218.2:g.22143_22145dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-117_3483-115dup	ENSP00000516154.1:n.3483-117_3483-115dup
ENST00000268124.11:c.3483-117_3483-115dup MANE Select	ENSP00000268124.5:n.3483-117_3483-115dup
ENST00000530292.3:c.3183-117_3183-115dup	ENSP00000432885.2:n.3183-117_3183-115dup
ENST00000635986.2:c.*553-117_*553-115dup	ENSP00000490653.2:n.*553-117_*553-115dup
ENST00000636774.1:c.*2087-117_*2087-115dup	ENSP00000489799.1:n.*2087-117_*2087-115dup
ENST00000637042.1:n.72-182_72-180dup
ENST00000637238.1:c.2391-117_2391-115dup	ENSP00000490756.1:n.2391-117_2391-115dup
ENST00000637264.1:c.2555-177_2555-175dup
ENST00000666746.1:c.3060-117_3060-115dup
ENST00000672071.1:n.4568_4570dup
ENST00000672695.1:n.1262-117_1262-115dup
ENST00000672923.2:n.3483-117_3483-115dup
ENST00000268124.9:c.3483-117_3483-115dup	ENSP00000268124.5:n.3483-117_3483-115dup
ENST00000442287.6:c.3483-117_3483-115dup	ENSP00000399851.2:n.3483-117_3483-115dup
ENST00000526671.1:n.176_178dup
ENST00000530292.2:c.666-117_666-115dup	ENSP00000432885.1:n.666-117_666-115dup
ENST00000631044.2:c.*2907-117_*2907-115dup	ENSP00000486730.1:n.*2907-117_*2907-115dup
NM_001126131.1:c.3483-117_3483-115dup	NP_001119603.1:n.3483-117_3483-115dup
NM_002693.2:c.3483-117_3483-115dup	NP_002684.1:n.3483-117_3483-115dup
NM_001126131.2:c.3483-117_3483-115dup	NP_001119603.1:n.3483-117_3483-115dup
NM_002693.3:c.3483-117_3483-115dup MANE Select	NP_002684.1:n.3483-117_3483-115dup