Canonical Allele Identifier: CA2580090215

Gene: POLG

Linked Data

• ClinVar Variation Id: 2498624
• ClinVar RCV Id: RCV003222833

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319263del , CM000677.2:g.89319263del	GRCh38
NC_000015.9:g.89862494del , CM000677.1:g.89862494del	GRCh37
NC_000015.8:g.87663498del	NCBI36
NG_008218.1:g.20534del
NG_008218.2:g.20534del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3070del	ENSP00000516154.1:p.Asp1024IlefsTer?
ENST00000268124.11:c.3070del MANE Select	ENSP00000268124.5:p.Asp1024IlefsTer?
ENST00000530292.3:c.2671del	ENSP00000432885.2:p.Asp891IlefsTer?
ENST00000635986.2:c.*140del	ENSP00000490653.2:n.*140del
ENST00000636530.1:n.30del
ENST00000636774.1:c.*1637del	ENSP00000489799.1:n.*1637del
ENST00000637238.1:c.1879del	ENSP00000490756.1:n.1879del
ENST00000637264.1:c.2142del
ENST00000666746.1:c.2647del
ENST00000672071.1:n.3268del
ENST00000672695.1:n.247del
ENST00000672923.2:n.3070del
ENST00000268124.9:c.3070del	ENSP00000268124.5:p.Asp1024IlefsTer?
ENST00000442287.6:c.3070del	ENSP00000399851.2:p.Asp1024IlefsTer?
ENST00000530292.2:c.154del	ENSP00000432885.1:p.Asp52IlefsTer?
ENST00000631044.2:c.*2494del	ENSP00000486730.1:n.*2494del
NM_001126131.1:c.3070del	NP_001119603.1:p.Asp1024IlefsTer?
NM_002693.2:c.3070del	NP_002684.1:p.Asp1024IlefsTer?
NM_001126131.2:c.3070del	NP_001119603.1:p.Asp1024IlefsTer?
NM_002693.3:c.3070del MANE Select	NP_002684.1:p.Asp1024IlefsTer?