Canonical Allele Identifier: CA915946117

Gene: POLG

Linked Data

• ClinVar Variation Id: 807302
• ClinVar RCV Id: RCV000995410
• dbSNP Id: rs1596348339
• gnomAD v4: 15-89317390-T-TATC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317391_89317393dup , CM000677.2:g.89317391_89317393dup	GRCh38
NC_000015.9:g.89860622_89860624dup , CM000677.1:g.89860622_89860624dup	GRCh37
NC_000015.8:g.87661626_87661628dup	NCBI36
NG_008218.1:g.22403_22405dup
NG_011736.1:g.78429_78431dup , LRG_500:g.78429_78431dup
NG_008218.2:g.22403_22405dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3626_3628dup	ENSP00000516154.1:p.Tyr1210Ter
ENST00000268124.11:c.3626_3628dup MANE Select	ENSP00000268124.5:p.Tyr1210Ter
ENST00000530292.3:c.3326_3328dup	ENSP00000432885.2:n.3326_3328dup
ENST00000635986.2:c.*696_*698dup	ENSP00000490653.2:n.*696_*698dup
ENST00000636774.1:c.*2230_*2232dup	ENSP00000489799.1:n.*2230_*2232dup
ENST00000637238.1:c.2534_2536dup	ENSP00000490756.1:n.2534_2536dup
ENST00000637264.1:c.2638_2640dup
ENST00000666746.1:c.3203_3205dup
ENST00000672071.1:n.4828_4830dup
ENST00000672695.1:n.1405_1407dup
ENST00000672923.2:n.3626_3628dup
ENST00000268124.9:c.3626_3628dup	ENSP00000268124.5:p.Tyr1210Ter
ENST00000442287.6:c.3626_3628dup	ENSP00000399851.2:p.Tyr1210Ter
ENST00000526671.1:n.436_438dup
ENST00000530292.2:c.809_811dup	ENSP00000432885.1:n.809_811dup
ENST00000631044.2:c.*3050_*3052dup	ENSP00000486730.1:n.*3050_*3052dup
NM_001126131.1:c.3626_3628dup	NP_001119603.1:p.Tyr1210Ter
NM_002693.2:c.3626_3628dup	NP_002684.1:p.Tyr1210Ter
NM_001126131.2:c.3626_3628dup	NP_001119603.1:p.Tyr1210Ter
NM_002693.3:c.3626_3628dup MANE Select	NP_002684.1:p.Tyr1210Ter