Canonical Allele Identifier: CA716880138

Gene: POLG

Linked Data

• dbSNP Id: rs1341822686
• gnomAD v4: 15-89317643-C-CAACA
• MyVariant Identifiers: chr15:g.89860874_89860875insAACA (hg19) ; chr15:g.89317643_89317644insAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317644_89317647dup , CM000677.2:g.89317644_89317647dup	GRCh38
NC_000015.9:g.89860875_89860878dup , CM000677.1:g.89860875_89860878dup	GRCh37
NC_000015.8:g.87661879_87661882dup	NCBI36
NG_008218.1:g.22149_22152dup
NG_011736.1:g.78682_78685dup , LRG_500:g.78682_78685dup
NG_008218.2:g.22149_22152dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-111_3483-108dup	ENSP00000516154.1:n.3483-111_3483-108dup
ENST00000268124.11:c.3483-111_3483-108dup MANE Select	ENSP00000268124.5:n.3483-111_3483-108dup
ENST00000530292.3:c.3183-111_3183-108dup	ENSP00000432885.2:n.3183-111_3183-108dup
ENST00000635986.2:c.*553-111_*553-108dup	ENSP00000490653.2:n.*553-111_*553-108dup
ENST00000636774.1:c.*2087-111_*2087-108dup	ENSP00000489799.1:n.*2087-111_*2087-108dup
ENST00000637042.1:n.72-176_72-173dup
ENST00000637238.1:c.2391-111_2391-108dup	ENSP00000490756.1:n.2391-111_2391-108dup
ENST00000637264.1:c.2555-171_2555-168dup
ENST00000666746.1:c.3060-111_3060-108dup
ENST00000672071.1:n.4574_4577dup
ENST00000672695.1:n.1262-111_1262-108dup
ENST00000672923.2:n.3483-111_3483-108dup
ENST00000268124.9:c.3483-111_3483-108dup	ENSP00000268124.5:n.3483-111_3483-108dup
ENST00000442287.6:c.3483-111_3483-108dup	ENSP00000399851.2:n.3483-111_3483-108dup
ENST00000526671.1:n.182_185dup
ENST00000530292.2:c.666-111_666-108dup	ENSP00000432885.1:n.666-111_666-108dup
ENST00000631044.2:c.*2907-111_*2907-108dup	ENSP00000486730.1:n.*2907-111_*2907-108dup
NM_001126131.1:c.3483-111_3483-108dup	NP_001119603.1:n.3483-111_3483-108dup
NM_002693.2:c.3483-111_3483-108dup	NP_002684.1:n.3483-111_3483-108dup
NM_001126131.2:c.3483-111_3483-108dup	NP_001119603.1:n.3483-111_3483-108dup
NM_002693.3:c.3483-111_3483-108dup MANE Select	NP_002684.1:n.3483-111_3483-108dup