Canonical Allele Identifier: CA972592556

Gene: POLG

Linked Data

• ClinVar Variation Id: 1424324
• ClinVar RCV Id: RCV001957151
• dbSNP Id: rs2055313419
• gnomAD v3: 15-89317520-T-TGTAGGCAAACATGCACCTGAAAGAGACC
• gnomAD v4: 15-89317520-T-TGTAGGCAAACATGCACCTGAAAGAGACC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317521_89317548dup , CM000677.2:g.89317521_89317548dup	GRCh38
NC_000015.9:g.89860752_89860779dup , CM000677.1:g.89860752_89860779dup	GRCh37
NC_000015.8:g.87661756_87661783dup	NCBI36
NG_008218.1:g.22248_22275dup
NG_011736.1:g.78559_78586dup , LRG_500:g.78559_78586dup
NG_008218.2:g.22248_22275dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-12_3498dup
ENST00000268124.11:c.3483-12_3498dup
ENST00000530292.3:c.3183-12_3198dup
ENST00000635986.2:c.*553-12_*568dup
ENST00000636774.1:c.*2087-12_*2102dup
ENST00000637042.1:n.72-77_72-50dup
ENST00000637238.1:c.2391-12_2406dup
ENST00000637264.1:c.2555-72_2555-45dup
ENST00000666746.1:c.3060-12_3075dup
ENST00000672071.1:n.4673_4700dup
ENST00000672695.1:n.1262-12_1277dup
ENST00000672923.2:n.3483-12_3498dup
ENST00000268124.9:c.3483-12_3498dup
ENST00000442287.6:c.3483-12_3498dup
ENST00000526671.1:n.281_308dup
ENST00000530292.2:c.666-12_681dup
ENST00000631044.2:c.*2907-12_*2922dup
NM_001126131.1:c.3483-12_3498dup
NM_002693.2:c.3483-12_3498dup
NM_001126131.2:c.3483-12_3498dup
NM_002693.3:c.3483-12_3498dup