Canonical Allele Identifier: CA492076435
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323445_89323446insA , CM000677.2:g.89323445_89323446insA GRCh38
NC_000015.9:g.89866676_89866677insA , CM000677.1:g.89866676_89866677insA GRCh37
NC_000015.8:g.87667680_87667681insA NCBI36
NG_008218.1:g.16350_16351insT
NG_008218.2:g.16350_16351insT

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2223_2224insT ENSP00000516154.1:p.Val742CysfsTer17
ENST00000268124.11:c.2223_2224insT MANE Select ENSP00000268124.5:p.Val742CysfsTer17
ENST00000530292.3:c.1824_1825insT ENSP00000432885.2:p.Val609CysfsTer17
ENST00000635986.2:c.2223_2224insT ENSP00000490653.2:p.Val742CysfsTer17
ENST00000636774.1:c.*790_*791insT ENSP00000489799.1:n.*790_*791insT
ENST00000637238.1:c.920_921insT ENSP00000490756.1:n.920_921insT
ENST00000637264.1:c.1295_1296insT
ENST00000666746.1:c.1800_1801insT
ENST00000670281.1:c.543_544insT ENSP00000499709.1:p.Val182CysfsTer17
ENST00000672071.1:n.2421_2422insT
ENST00000672923.2:n.2326_2327insT
ENST00000268124.9:c.2223_2224insT ENSP00000268124.5:p.Val742CysfsTer17
ENST00000442287.6:c.2223_2224insT ENSP00000399851.2:p.Val742CysfsTer17
ENST00000526314.2:c.539+369_539+370insT
ENST00000526398.1:c.372_373insT
ENST00000532584.5:n.425_426insT
ENST00000631044.2:c.*1647_*1648insT ENSP00000486730.1:n.*1647_*1648insT
NM_001126131.1:c.2223_2224insT NP_001119603.1:p.Val742CysfsTer17
NM_002693.2:c.2223_2224insT NP_002684.1:p.Val742CysfsTer17
NM_001126131.2:c.2223_2224insT NP_001119603.1:p.Val742CysfsTer17
NM_002693.3:c.2223_2224insT MANE Select NP_002684.1:p.Val742CysfsTer17