Canonical Allele Identifier: CA2731552640

Gene: POLG

Linked Data

• dbSNP Id: rs2152062886

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323439_89323443dup , CM000677.2:g.89323439_89323443dup	GRCh38
NC_000015.9:g.89866670_89866674dup , CM000677.1:g.89866670_89866674dup	GRCh37
NC_000015.8:g.87667674_87667678dup	NCBI36
NG_008218.1:g.16353_16357dup
NG_008218.2:g.16353_16357dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2226_2230dup	ENSP00000516154.1:p.Ile744ArgfsTer?
ENST00000268124.11:c.2226_2230dup MANE Select	ENSP00000268124.5:p.Ile744ArgfsTer?
ENST00000530292.3:c.1827_1831dup	ENSP00000432885.2:p.Ile611ArgfsTer?
ENST00000635986.2:c.2226_2230dup	ENSP00000490653.2:p.Ile744ArgfsTer?
ENST00000636774.1:c.*793_*797dup	ENSP00000489799.1:n.*793_*797dup
ENST00000637238.1:c.923_927dup	ENSP00000490756.1:n.923_927dup
ENST00000637264.1:c.1298_1302dup
ENST00000666746.1:c.1803_1807dup
ENST00000670281.1:c.546_550dup	ENSP00000499709.1:p.Ile184ArgfsTer?
ENST00000672071.1:n.2424_2428dup
ENST00000672923.2:n.2329_2333dup
ENST00000268124.9:c.2226_2230dup	ENSP00000268124.5:p.Ile744ArgfsTer?
ENST00000442287.6:c.2226_2230dup	ENSP00000399851.2:p.Ile744ArgfsTer?
ENST00000526314.2:c.539+372_539+376dup
ENST00000526398.1:c.375_379dup
ENST00000532584.5:n.428_432dup
ENST00000631044.2:c.*1650_*1654dup	ENSP00000486730.1:n.*1650_*1654dup
NM_001126131.1:c.2226_2230dup	NP_001119603.1:p.Ile744ArgfsTer?
NM_002693.2:c.2226_2230dup	NP_002684.1:p.Ile744ArgfsTer?
NM_001126131.2:c.2226_2230dup	NP_001119603.1:p.Ile744ArgfsTer?
NM_002693.3:c.2226_2230dup MANE Select	NP_002684.1:p.Ile744ArgfsTer?