Canonical Allele Identifier: CA2630255304

Gene: POLG

Linked Data

• gnomAD v4: 15-89317651-C-CATCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317652_89317655dup , CM000677.2:g.89317652_89317655dup	GRCh38
NC_000015.9:g.89860883_89860886dup , CM000677.1:g.89860883_89860886dup	GRCh37
NC_000015.8:g.87661887_87661890dup	NCBI36
NG_008218.1:g.22141_22144dup
NG_011736.1:g.78690_78693dup , LRG_500:g.78690_78693dup
NG_008218.2:g.22141_22144dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-119_3483-116dup	ENSP00000516154.1:n.3483-119_3483-116dup
ENST00000268124.11:c.3483-119_3483-116dup MANE Select	ENSP00000268124.5:n.3483-119_3483-116dup
ENST00000530292.3:c.3183-119_3183-116dup	ENSP00000432885.2:n.3183-119_3183-116dup
ENST00000635986.2:c.*553-119_*553-116dup	ENSP00000490653.2:n.*553-119_*553-116dup
ENST00000636774.1:c.*2087-119_*2087-116dup	ENSP00000489799.1:n.*2087-119_*2087-116dup
ENST00000637042.1:n.72-184_72-181dup
ENST00000637238.1:c.2391-119_2391-116dup	ENSP00000490756.1:n.2391-119_2391-116dup
ENST00000637264.1:c.2555-179_2555-176dup
ENST00000666746.1:c.3060-119_3060-116dup
ENST00000672071.1:n.4566_4569dup
ENST00000672695.1:n.1262-119_1262-116dup
ENST00000672923.2:n.3483-119_3483-116dup
ENST00000268124.9:c.3483-119_3483-116dup	ENSP00000268124.5:n.3483-119_3483-116dup
ENST00000442287.6:c.3483-119_3483-116dup	ENSP00000399851.2:n.3483-119_3483-116dup
ENST00000526671.1:n.174_177dup
ENST00000530292.2:c.666-119_666-116dup	ENSP00000432885.1:n.666-119_666-116dup
ENST00000631044.2:c.*2907-119_*2907-116dup	ENSP00000486730.1:n.*2907-119_*2907-116dup
NM_001126131.1:c.3483-119_3483-116dup	NP_001119603.1:n.3483-119_3483-116dup
NM_002693.2:c.3483-119_3483-116dup	NP_002684.1:n.3483-119_3483-116dup
NM_001126131.2:c.3483-119_3483-116dup	NP_001119603.1:n.3483-119_3483-116dup
NM_002693.3:c.3483-119_3483-116dup MANE Select	NP_002684.1:n.3483-119_3483-116dup