Canonical Allele Identifier: CA7724112

Gene: POLG

Linked Data

• dbSNP Id: rs749605864
• ExAC: 15:89860773 A / AGAGACCCAATCTACTCTCACAG
• gnomAD v2: 15-89860773-A-AGAGACCCAATCTACTCTCACAG
• gnomAD v4: 15-89317542-A-AGAGACCCAATCTACTCTCACAG
• MyVariant Identifiers: chr15:g.89860773_89860774insGAGACCCAATCTACTCTCACAG (hg19) ; chr15:g.89317542_89317543insGAGACCCAATCTACTCTCACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317543_89317564dup , CM000677.2:g.89317543_89317564dup	GRCh38
NC_000015.9:g.89860774_89860795dup , CM000677.1:g.89860774_89860795dup	GRCh37
NC_000015.8:g.87661778_87661799dup	NCBI36
NG_008218.1:g.22232_22253dup
NG_011736.1:g.78581_78602dup , LRG_500:g.78581_78602dup
NG_008218.2:g.22232_22253dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-28_3483-7dup	ENSP00000516154.1:n.3483-28_3483-7dup
ENST00000268124.11:c.3483-28_3483-7dup MANE Select	ENSP00000268124.5:n.3483-28_3483-7dup
ENST00000530292.3:c.3183-28_3183-7dup	ENSP00000432885.2:n.3183-28_3183-7dup
ENST00000635986.2:c.*553-28_*553-7dup	ENSP00000490653.2:n.*553-28_*553-7dup
ENST00000636774.1:c.*2087-28_*2087-7dup	ENSP00000489799.1:n.*2087-28_*2087-7dup
ENST00000637042.1:n.72-93_72-72dup
ENST00000637238.1:c.2391-28_2391-7dup	ENSP00000490756.1:n.2391-28_2391-7dup
ENST00000637264.1:c.2555-88_2555-67dup
ENST00000666746.1:c.3060-28_3060-7dup
ENST00000672071.1:n.4657_4678dup
ENST00000672695.1:n.1262-28_1262-7dup
ENST00000672923.2:n.3483-28_3483-7dup
ENST00000268124.9:c.3483-28_3483-7dup	ENSP00000268124.5:n.3483-28_3483-7dup
ENST00000442287.6:c.3483-28_3483-7dup	ENSP00000399851.2:n.3483-28_3483-7dup
ENST00000526671.1:n.265_286dup
ENST00000530292.2:c.666-28_666-7dup	ENSP00000432885.1:n.666-28_666-7dup
ENST00000631044.2:c.*2907-28_*2907-7dup	ENSP00000486730.1:n.*2907-28_*2907-7dup
NM_001126131.1:c.3483-28_3483-7dup	NP_001119603.1:n.3483-28_3483-7dup
NM_002693.2:c.3483-28_3483-7dup	NP_002684.1:n.3483-28_3483-7dup
NM_001126131.2:c.3483-28_3483-7dup	NP_001119603.1:n.3483-28_3483-7dup
NM_002693.3:c.3483-28_3483-7dup MANE Select	NP_002684.1:n.3483-28_3483-7dup