Canonical Allele Identifier: CA2526739292
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325641_89325644del , CM000677.2:g.89325641_89325644del GRCh38
NC_000015.9:g.89868872_89868875del , CM000677.1:g.89868872_89868875del GRCh37
NC_000015.8:g.87669876_87669879del NCBI36
NG_008218.1:g.14152_14155del
NG_008218.2:g.14152_14155del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1755_1758del ENSP00000516154.1:p.Trp585CysfsTer?
ENST00000268124.11:c.1755_1758del MANE Select ENSP00000268124.5:p.Trp585CysfsTer?
ENST00000530292.3:c.1356_1359del ENSP00000432885.2:p.Trp452CysfsTer?
ENST00000635986.2:c.1755_1758del ENSP00000490653.2:p.Trp585CysfsTer?
ENST00000636774.1:c.*322_*325del ENSP00000489799.1:n.*322_*325del
ENST00000637238.1:c.492_495del ENSP00000490756.1:p.Trp164CysfsTer?
ENST00000637264.1:c.827_830del
ENST00000666746.1:c.1332_1335del
ENST00000670281.1:c.75_78del ENSP00000499709.1:p.Trp25CysfsTer?
ENST00000672071.1:n.1953_1956del
ENST00000672923.2:n.1858_1861del
ENST00000268124.9:c.1755_1758del ENSP00000268124.5:p.Trp585CysfsTer?
ENST00000442287.6:c.1755_1758del ENSP00000399851.2:p.Trp585CysfsTer?
ENST00000526314.2:c.137_140del
ENST00000631044.2:c.*1138_*1141del ENSP00000486730.1:n.*1138_*1141del
NM_001126131.1:c.1755_1758del NP_001119603.1:p.Trp585CysfsTer?
NM_002693.2:c.1755_1758del NP_002684.1:p.Trp585CysfsTer?
NM_001126131.2:c.1755_1758del NP_001119603.1:p.Trp585CysfsTer?
NM_002693.3:c.1755_1758del MANE Select NP_002684.1:p.Trp585CysfsTer?