Canonical Allele Identifier: CA716912254
Gene: POLG HGNC NCBI

Linked Data

dbSNP Id: rs1251850803

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327133del , CM000677.2:g.89327133del GRCh38
NC_000015.9:g.89870364del , CM000677.1:g.89870364del GRCh37
NC_000015.8:g.87671368del NCBI36
NG_008218.1:g.12666del
NG_008218.2:g.12666del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1433+37del ENSP00000516154.1:n.1433+37del
ENST00000268124.11:c.1433+37del MANE Select ENSP00000268124.5:n.1433+37del
ENST00000530292.3:c.1034+37del ENSP00000432885.2:n.1034+37del
ENST00000635986.2:c.1433+37del ENSP00000490653.2:n.1433+37del
ENST00000636774.1:c.1433+37del ENSP00000489799.1:n.1433+37del
ENST00000637238.1:c.170+37del ENSP00000490756.1:n.170+37del
ENST00000637264.1:c.505+37del
ENST00000666746.1:c.1010+37del
ENST00000672071.1:n.1631+37del
ENST00000672923.2:n.1536+37del
ENST00000268124.9:c.1433+37del ENSP00000268124.5:n.1433+37del
ENST00000442287.6:c.1433+37del ENSP00000399851.2:n.1433+37del
ENST00000532363.2:n.328del
ENST00000631044.2:c.*816+37del ENSP00000486730.1:n.*816+37del
NM_001126131.1:c.1433+37del NP_001119603.1:n.1433+37del
NM_002693.2:c.1433+37del NP_002684.1:n.1433+37del
NM_001126131.2:c.1433+37del NP_001119603.1:n.1433+37del
NM_002693.3:c.1433+37del MANE Select NP_002684.1:n.1433+37del