Canonical Allele Identifier: CA16620026
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

ClinVar Variation Id: 420842
ClinVar RCV Id: RCV000481566 RCV001389575
dbSNP Id: rs1064794735
gnomAD v4: 15-89333368-GGGCGGCA-G
MyVariant Identifiers: chr15:g.89876600_89876606del (hg19) chr15:g.89333369_89333375del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333373_89333379del , CM000677.2:g.89333373_89333379del GRCh38
NC_000015.9:g.89876604_89876610del , CM000677.1:g.89876604_89876610del GRCh37
NC_000015.8:g.87677608_87677614del NCBI36
NG_008218.1:g.6421_6427del
NG_008218.2:g.6421_6427del

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.380_386del (POLG) ENSP00000516154.1:p.Leu127ProfsTer?
ENST00000706918.1:c.435_441del (POLGARF) ENSP00000516626.1:p.Ala146LeufsTer?
ENST00000268124.11:c.380_386del (POLG) MANE Select ENSP00000268124.5:p.Leu127ProfsTer?
ENST00000635986.2:c.380_386del (POLG) ENSP00000490653.2:p.Leu127ProfsTer?
ENST00000636774.1:c.380_386del (POLG) ENSP00000489799.1:p.Leu127ProfsTer?
ENST00000650303.2:c.435_441del (POLG) ENSP00000497242.2:p.Ala146LeufsTer?
ENST00000666746.1:c.37_43del (POLG)
ENST00000672071.1:n.578_584del (POLG)
ENST00000268124.9:c.380_386del (POLG) ENSP00000268124.5:p.Leu127ProfsTer?
ENST00000442287.6:c.380_386del (POLG) ENSP00000399851.2:p.Leu127ProfsTer?
ENST00000631044.2:c.380_386del (POLG) ENSP00000486730.1:p.Leu127ProfsTer?
NM_001126131.1:c.380_386del (POLG) NP_001119603.1:p.Leu127ProfsTer?
NM_002693.2:c.380_386del (POLG) NP_002684.1:p.Leu127ProfsTer?
NM_001126131.2:c.380_386del (POLG) NP_001119603.1:p.Leu127ProfsTer?
NM_002693.3:c.380_386del (POLG) MANE Select NP_002684.1:p.Leu127ProfsTer?
Search 100 bp 5'
Search 100 bp 3'