Canonical Allele Identifier: CA7724081

Gene: POLG

Linked Data

• dbSNP Id: rs755054845
• ExAC: 15:89860620 G / GT
• gnomAD v2: 15-89860620-G-GT
• gnomAD v4: 15-89317389-G-GT
• MyVariant Identifiers: chr15:g.89860620_89860621insT (hg19) ; chr15:g.89317389_89317390insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317390dup , CM000677.2:g.89317390dup	GRCh38
NC_000015.9:g.89860621dup , CM000677.1:g.89860621dup	GRCh37
NC_000015.8:g.87661625dup	NCBI36
NG_008218.1:g.22406dup
NG_011736.1:g.78428dup , LRG_500:g.78428dup
NG_008218.2:g.22406dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3629dup	ENSP00000516154.1:p.Tyr1210Ter
ENST00000268124.11:c.3629dup MANE Select	ENSP00000268124.5:p.Tyr1210Ter
ENST00000530292.3:c.3329dup	ENSP00000432885.2:n.3329dup
ENST00000635986.2:c.*699dup	ENSP00000490653.2:n.*699dup
ENST00000636774.1:c.*2233dup	ENSP00000489799.1:n.*2233dup
ENST00000637238.1:c.2537dup	ENSP00000490756.1:n.2537dup
ENST00000637264.1:c.2641dup
ENST00000666746.1:c.3206dup
ENST00000672071.1:n.4831dup
ENST00000672695.1:n.1408dup
ENST00000672923.2:n.3629dup
ENST00000268124.9:c.3629dup	ENSP00000268124.5:p.Tyr1210Ter
ENST00000442287.6:c.3629dup	ENSP00000399851.2:p.Tyr1210Ter
ENST00000526671.1:n.439dup
ENST00000530292.2:c.812dup	ENSP00000432885.1:n.812dup
ENST00000631044.2:c.*3053dup	ENSP00000486730.1:n.*3053dup
NM_001126131.1:c.3629dup	NP_001119603.1:p.Tyr1210Ter
NM_002693.2:c.3629dup	NP_002684.1:p.Tyr1210Ter
NM_001126131.2:c.3629dup	NP_001119603.1:p.Tyr1210Ter
NM_002693.3:c.3629dup MANE Select	NP_002684.1:p.Tyr1210Ter