Canonical Allele Identifier: CA2731552763

Gene: POLG

Linked Data

• dbSNP Id: rs2152062949

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323507del , CM000677.2:g.89323507del	GRCh38
NC_000015.9:g.89866738del , CM000677.1:g.89866738del	GRCh37
NC_000015.8:g.87667742del	NCBI36
NG_008218.1:g.16291del
NG_008218.2:g.16291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2164del	ENSP00000516154.1:p.Arg722ValfsTer?
ENST00000268124.11:c.2164del MANE Select	ENSP00000268124.5:p.Arg722ValfsTer?
ENST00000530292.3:c.1765del	ENSP00000432885.2:p.Arg589ValfsTer?
ENST00000635986.2:c.2164del	ENSP00000490653.2:p.Arg722ValfsTer?
ENST00000636774.1:c.*731del	ENSP00000489799.1:n.*731del
ENST00000637238.1:c.861del	ENSP00000490756.1:n.861del
ENST00000637264.1:c.1236del
ENST00000666746.1:c.1741del
ENST00000670281.1:c.484del	ENSP00000499709.1:p.Arg162ValfsTer?
ENST00000672071.1:n.2362del
ENST00000672923.2:n.2267del
ENST00000268124.9:c.2164del	ENSP00000268124.5:p.Arg722ValfsTer?
ENST00000442287.6:c.2164del	ENSP00000399851.2:p.Arg722ValfsTer?
ENST00000526314.2:c.539+310del
ENST00000526398.1:c.313del
ENST00000532584.5:n.366del
ENST00000631044.2:c.*1588del	ENSP00000486730.1:n.*1588del
NM_001126131.1:c.2164del	NP_001119603.1:p.Arg722ValfsTer?
NM_002693.2:c.2164del	NP_002684.1:p.Arg722ValfsTer?
NM_001126131.2:c.2164del	NP_001119603.1:p.Arg722ValfsTer?
NM_002693.3:c.2164del MANE Select	NP_002684.1:p.Arg722ValfsTer?