Canonical Allele Identifier: CA619511428

Gene: POLG

Linked Data

• dbSNP Id: rs1567184378
• gnomAD v2: 15-89860897-C-CTAAG
• gnomAD v3: 15-89317666-C-CTAAG
• gnomAD v4: 15-89317666-C-CTAAG
• MyVariant Identifiers: chr15:g.89860897_89860898insTAAG (hg19) ; chr15:g.89317666_89317667insTAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317668_89317671dup , CM000677.2:g.89317668_89317671dup	GRCh38
NC_000015.9:g.89860899_89860902dup , CM000677.1:g.89860899_89860902dup	GRCh37
NC_000015.8:g.87661903_87661906dup	NCBI36
NG_008218.1:g.22126_22129dup
NG_011736.1:g.78706_78709dup , LRG_500:g.78706_78709dup
NG_008218.2:g.22126_22129dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-134_3483-131dup	ENSP00000516154.1:n.3483-134_3483-131dup
ENST00000268124.11:c.3483-134_3483-131dup MANE Select	ENSP00000268124.5:n.3483-134_3483-131dup
ENST00000530292.3:c.3183-134_3183-131dup	ENSP00000432885.2:n.3183-134_3183-131dup
ENST00000635986.2:c.*553-134_*553-131dup	ENSP00000490653.2:n.*553-134_*553-131dup
ENST00000636774.1:c.*2087-134_*2087-131dup	ENSP00000489799.1:n.*2087-134_*2087-131dup
ENST00000637042.1:n.72-199_72-196dup
ENST00000637238.1:c.2391-134_2391-131dup	ENSP00000490756.1:n.2391-134_2391-131dup
ENST00000637264.1:c.2555-194_2555-191dup
ENST00000666746.1:c.3060-134_3060-131dup
ENST00000672071.1:n.4551_4554dup
ENST00000672695.1:n.1262-134_1262-131dup
ENST00000672923.2:n.3483-134_3483-131dup
ENST00000268124.9:c.3483-134_3483-131dup	ENSP00000268124.5:n.3483-134_3483-131dup
ENST00000442287.6:c.3483-134_3483-131dup	ENSP00000399851.2:n.3483-134_3483-131dup
ENST00000526671.1:n.159_162dup
ENST00000530292.2:c.666-134_666-131dup	ENSP00000432885.1:n.666-134_666-131dup
ENST00000631044.2:c.*2907-134_*2907-131dup	ENSP00000486730.1:n.*2907-134_*2907-131dup
NM_001126131.1:c.3483-134_3483-131dup	NP_001119603.1:n.3483-134_3483-131dup
NM_002693.2:c.3483-134_3483-131dup	NP_002684.1:n.3483-134_3483-131dup
NM_001126131.2:c.3483-134_3483-131dup	NP_001119603.1:n.3483-134_3483-131dup
NM_002693.3:c.3483-134_3483-131dup MANE Select	NP_002684.1:n.3483-134_3483-131dup