Canonical Allele Identifier: CA2573151270

Gene: POLG

Linked Data

• ClinVar Variation Id: 1457770
• ClinVar RCV Id: RCV001949327
• dbSNP Id: rs2152065886

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325553del , CM000677.2:g.89325553del	GRCh38
NC_000015.9:g.89868784del , CM000677.1:g.89868784del	GRCh37
NC_000015.8:g.87669788del	NCBI36
NG_008218.1:g.14243del
NG_008218.2:g.14243del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1846del	ENSP00000516154.1:p.Glu616SerfsTer?
ENST00000268124.11:c.1846del MANE Select	ENSP00000268124.5:p.Glu616SerfsTer?
ENST00000530292.3:c.1447del	ENSP00000432885.2:p.Glu483SerfsTer?
ENST00000635986.2:c.1846del	ENSP00000490653.2:p.Glu616SerfsTer?
ENST00000636774.1:c.*413del	ENSP00000489799.1:n.*413del
ENST00000637238.1:c.583del	ENSP00000490756.1:p.Glu195SerfsTer?
ENST00000637264.1:c.918del
ENST00000666746.1:c.1423del
ENST00000670281.1:c.166del	ENSP00000499709.1:p.Glu56SerfsTer?
ENST00000672071.1:n.2044del
ENST00000672923.2:n.1949del
ENST00000268124.9:c.1846del	ENSP00000268124.5:p.Glu616SerfsTer?
ENST00000442287.6:c.1846del	ENSP00000399851.2:p.Glu616SerfsTer?
ENST00000526314.2:c.228del
ENST00000526398.1:c.35del
ENST00000532584.5:n.48del
ENST00000631044.2:c.*1229del	ENSP00000486730.1:n.*1229del
NM_001126131.1:c.1846del	NP_001119603.1:p.Glu616SerfsTer?
NM_002693.2:c.1846del	NP_002684.1:p.Glu616SerfsTer?
NM_001126131.2:c.1846del	NP_001119603.1:p.Glu616SerfsTer?
NM_002693.3:c.1846del MANE Select	NP_002684.1:p.Glu616SerfsTer?