Canonical Allele Identifier: CA274539865

Gene: POLG

Linked Data

• dbSNP Id: rs781482686
• gnomAD v4: 15-89317694-C-CTGTT
• MyVariant Identifiers: chr15:g.89860925_89860926insTGTT (hg19) ; chr15:g.89317694_89317695insTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317696_89317699dup , CM000677.2:g.89317696_89317699dup	GRCh38
NC_000015.9:g.89860927_89860930dup , CM000677.1:g.89860927_89860930dup	GRCh37
NC_000015.8:g.87661931_87661934dup	NCBI36
NG_008218.1:g.22098_22101dup
NG_011736.1:g.78734_78737dup , LRG_500:g.78734_78737dup
NG_008218.2:g.22098_22101dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-162_3483-159dup	ENSP00000516154.1:n.3483-162_3483-159dup
ENST00000268124.11:c.3483-162_3483-159dup MANE Select	ENSP00000268124.5:n.3483-162_3483-159dup
ENST00000530292.3:c.3183-162_3183-159dup	ENSP00000432885.2:n.3183-162_3183-159dup
ENST00000635986.2:c.*553-162_*553-159dup	ENSP00000490653.2:n.*553-162_*553-159dup
ENST00000636774.1:c.*2087-162_*2087-159dup	ENSP00000489799.1:n.*2087-162_*2087-159dup
ENST00000637042.1:n.72-227_72-224dup
ENST00000637238.1:c.2391-162_2391-159dup	ENSP00000490756.1:n.2391-162_2391-159dup
ENST00000637264.1:c.2555-222_2555-219dup
ENST00000666746.1:c.3060-162_3060-159dup
ENST00000672071.1:n.4523_4526dup
ENST00000672695.1:n.1262-162_1262-159dup
ENST00000672923.2:n.3483-162_3483-159dup
ENST00000268124.9:c.3483-162_3483-159dup	ENSP00000268124.5:n.3483-162_3483-159dup
ENST00000442287.6:c.3483-162_3483-159dup	ENSP00000399851.2:n.3483-162_3483-159dup
ENST00000526671.1:n.131_134dup
ENST00000530292.2:c.666-162_666-159dup	ENSP00000432885.1:n.666-162_666-159dup
ENST00000631044.2:c.*2907-162_*2907-159dup	ENSP00000486730.1:n.*2907-162_*2907-159dup
NM_001126131.1:c.3483-162_3483-159dup	NP_001119603.1:n.3483-162_3483-159dup
NM_002693.2:c.3483-162_3483-159dup	NP_002684.1:n.3483-162_3483-159dup
NM_001126131.2:c.3483-162_3483-159dup	NP_001119603.1:n.3483-162_3483-159dup
NM_002693.3:c.3483-162_3483-159dup MANE Select	NP_002684.1:n.3483-162_3483-159dup