Canonical Allele Identifier: CA10602331

Gene: POLG

Linked Data

• ClinVar Variation Id: 1343944
• ClinVar RCV Id: RCV001847489 ; RCV002074407 ; RCV003994338
• dbSNP Id: rs1324794268
• gnomAD v2: 15-89860776-G-GACCC
• gnomAD v3: 15-89317545-G-GACCC
• gnomAD v4: 15-89317545-G-GACCC
• MyVariant Identifiers: chr15:g.89860776_89860777insACCC (hg19) ; chr15:g.89317545_89317546insACCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317547_89317550dup , CM000677.2:g.89317547_89317550dup	GRCh38
NC_000015.9:g.89860778_89860781dup , CM000677.1:g.89860778_89860781dup	GRCh37
NC_000015.8:g.87661782_87661785dup	NCBI36
NG_008218.1:g.22247_22250dup
NG_011736.1:g.78585_78588dup , LRG_500:g.78585_78588dup
NG_008218.2:g.22247_22250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-13_3483-10dup	ENSP00000516154.1:n.3483-13_3483-10dup
ENST00000268124.11:c.3483-13_3483-10dup MANE Select	ENSP00000268124.5:n.3483-13_3483-10dup
ENST00000530292.3:c.3183-13_3183-10dup	ENSP00000432885.2:n.3183-13_3183-10dup
ENST00000635986.2:c.*553-13_*553-10dup	ENSP00000490653.2:n.*553-13_*553-10dup
ENST00000636774.1:c.*2087-13_*2087-10dup	ENSP00000489799.1:n.*2087-13_*2087-10dup
ENST00000637042.1:n.72-78_72-75dup
ENST00000637238.1:c.2391-13_2391-10dup	ENSP00000490756.1:n.2391-13_2391-10dup
ENST00000637264.1:c.2555-73_2555-70dup
ENST00000666746.1:c.3060-13_3060-10dup
ENST00000672071.1:n.4672_4675dup
ENST00000672695.1:n.1262-13_1262-10dup
ENST00000672923.2:n.3483-13_3483-10dup
ENST00000268124.9:c.3483-13_3483-10dup	ENSP00000268124.5:n.3483-13_3483-10dup
ENST00000442287.6:c.3483-13_3483-10dup	ENSP00000399851.2:n.3483-13_3483-10dup
ENST00000526671.1:n.280_283dup
ENST00000530292.2:c.666-13_666-10dup	ENSP00000432885.1:n.666-13_666-10dup
ENST00000631044.2:c.*2907-13_*2907-10dup	ENSP00000486730.1:n.*2907-13_*2907-10dup
NM_001126131.1:c.3483-13_3483-10dup	NP_001119603.1:n.3483-13_3483-10dup
NM_002693.2:c.3483-13_3483-10dup	NP_002684.1:n.3483-13_3483-10dup
NM_001126131.2:c.3483-13_3483-10dup	NP_001119603.1:n.3483-13_3483-10dup
NM_002693.3:c.3483-13_3483-10dup MANE Select	NP_002684.1:n.3483-13_3483-10dup