Canonical Allele Identifier: CA2194555527

Gene: POLG

Linked Data

• dbSNP Id: rs2055427777

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323475_89323479del , CM000677.2:g.89323475_89323479del	GRCh38
NC_000015.9:g.89866706_89866710del , CM000677.1:g.89866706_89866710del	GRCh37
NC_000015.8:g.87667710_87667714del	NCBI36
NG_008218.1:g.16317_16321del
NG_008218.2:g.16317_16321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2190_2194del	ENSP00000516154.1:p.Tyr732ProfsTer25
ENST00000268124.11:c.2190_2194del MANE Select	ENSP00000268124.5:p.Tyr732ProfsTer25
ENST00000530292.3:c.1791_1795del	ENSP00000432885.2:p.Tyr599ProfsTer25
ENST00000635986.2:c.2190_2194del	ENSP00000490653.2:p.Tyr732ProfsTer25
ENST00000636774.1:c.*757_*761del	ENSP00000489799.1:n.*757_*761del
ENST00000637238.1:c.887_891del	ENSP00000490756.1:n.887_891del
ENST00000637264.1:c.1262_1266del
ENST00000666746.1:c.1767_1771del
ENST00000670281.1:c.510_514del	ENSP00000499709.1:p.Tyr172ProfsTer25
ENST00000672071.1:n.2388_2392del
ENST00000672923.2:n.2293_2297del
ENST00000268124.9:c.2190_2194del	ENSP00000268124.5:p.Tyr732ProfsTer25
ENST00000442287.6:c.2190_2194del	ENSP00000399851.2:p.Tyr732ProfsTer25
ENST00000526314.2:c.539+336_539+340del
ENST00000526398.1:c.339_343del
ENST00000532584.5:n.392_396del
ENST00000631044.2:c.*1614_*1618del	ENSP00000486730.1:n.*1614_*1618del
NM_001126131.1:c.2190_2194del	NP_001119603.1:p.Tyr732ProfsTer25
NM_002693.2:c.2190_2194del	NP_002684.1:p.Tyr732ProfsTer25
NM_001126131.2:c.2190_2194del	NP_001119603.1:p.Tyr732ProfsTer25
NM_002693.3:c.2190_2194del MANE Select	NP_002684.1:p.Tyr732ProfsTer25