Canonical Allele Identifier: CA2805168114
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328756_89328760del , CM000677.2:g.89328756_89328760del GRCh38
NC_000015.9:g.89871987_89871991del , CM000677.1:g.89871987_89871991del GRCh37
NC_000015.8:g.87672991_87672995del NCBI36
NG_008218.1:g.11036_11040del
NG_008218.2:g.11036_11040del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1095_1099del ENSP00000516154.1:p.Gly366SerfsTer20
ENST00000268124.11:c.1095_1099del MANE Select ENSP00000268124.5:p.Gly366SerfsTer20
ENST00000530292.3:c.696_700del ENSP00000432885.2:p.Gly233SerfsTer20
ENST00000635986.2:c.1095_1099del ENSP00000490653.2:p.Gly366SerfsTer20
ENST00000636774.1:c.1095_1099del ENSP00000489799.1:p.Gly366SerfsTer20
ENST00000637264.1:c.167_171del
ENST00000666746.1:c.752_756del
ENST00000672071.1:n.1293_1297del
ENST00000672923.2:n.92_96del
ENST00000268124.9:c.1095_1099del ENSP00000268124.5:p.Gly366SerfsTer20
ENST00000442287.6:c.1095_1099del ENSP00000399851.2:p.Gly366SerfsTer20
ENST00000631044.2:c.*478_*482del ENSP00000486730.1:n.*478_*482del
NM_001126131.1:c.1095_1099del NP_001119603.1:p.Gly366SerfsTer20
NM_002693.2:c.1095_1099del NP_002684.1:p.Gly366SerfsTer20
NM_001126131.2:c.1095_1099del NP_001119603.1:p.Gly366SerfsTer20
NM_002693.3:c.1095_1099del MANE Select NP_002684.1:p.Gly366SerfsTer20