Canonical Allele Identifier: CA2630255310

Gene: POLG

Linked Data

• gnomAD v4: 15-89317654-C-CTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317656_89317658dup , CM000677.2:g.89317656_89317658dup	GRCh38
NC_000015.9:g.89860887_89860889dup , CM000677.1:g.89860887_89860889dup	GRCh37
NC_000015.8:g.87661891_87661893dup	NCBI36
NG_008218.1:g.22139_22141dup
NG_011736.1:g.78694_78696dup , LRG_500:g.78694_78696dup
NG_008218.2:g.22139_22141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-121_3483-119dup	ENSP00000516154.1:n.3483-121_3483-119dup
ENST00000268124.11:c.3483-121_3483-119dup MANE Select	ENSP00000268124.5:n.3483-121_3483-119dup
ENST00000530292.3:c.3183-121_3183-119dup	ENSP00000432885.2:n.3183-121_3183-119dup
ENST00000635986.2:c.*553-121_*553-119dup	ENSP00000490653.2:n.*553-121_*553-119dup
ENST00000636774.1:c.*2087-121_*2087-119dup	ENSP00000489799.1:n.*2087-121_*2087-119dup
ENST00000637042.1:n.72-186_72-184dup
ENST00000637238.1:c.2391-121_2391-119dup	ENSP00000490756.1:n.2391-121_2391-119dup
ENST00000637264.1:c.2555-181_2555-179dup
ENST00000666746.1:c.3060-121_3060-119dup
ENST00000672071.1:n.4564_4566dup
ENST00000672695.1:n.1262-121_1262-119dup
ENST00000672923.2:n.3483-121_3483-119dup
ENST00000268124.9:c.3483-121_3483-119dup	ENSP00000268124.5:n.3483-121_3483-119dup
ENST00000442287.6:c.3483-121_3483-119dup	ENSP00000399851.2:n.3483-121_3483-119dup
ENST00000526671.1:n.172_174dup
ENST00000530292.2:c.666-121_666-119dup	ENSP00000432885.1:n.666-121_666-119dup
ENST00000631044.2:c.*2907-121_*2907-119dup	ENSP00000486730.1:n.*2907-121_*2907-119dup
NM_001126131.1:c.3483-121_3483-119dup	NP_001119603.1:n.3483-121_3483-119dup
NM_002693.2:c.3483-121_3483-119dup	NP_002684.1:n.3483-121_3483-119dup
NM_001126131.2:c.3483-121_3483-119dup	NP_001119603.1:n.3483-121_3483-119dup
NM_002693.3:c.3483-121_3483-119dup MANE Select	NP_002684.1:n.3483-121_3483-119dup