Canonical Allele Identifier: CA2805170396
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325723_89325724del , CM000677.2:g.89325723_89325724del GRCh38
NC_000015.9:g.89868954_89868955del , CM000677.1:g.89868954_89868955del GRCh37
NC_000015.8:g.87669958_87669959del NCBI36
NG_008218.1:g.14072_14073del
NG_008218.2:g.14072_14073del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1713-38_1713-37del ENSP00000516154.1:n.1713-38_1713-37del
ENST00000268124.11:c.1713-38_1713-37del MANE Select ENSP00000268124.5:n.1713-38_1713-37del
ENST00000530292.3:c.1314-38_1314-37del ENSP00000432885.2:n.1314-38_1314-37del
ENST00000635986.2:c.1713-38_1713-37del ENSP00000490653.2:n.1713-38_1713-37del
ENST00000636774.1:c.*280-38_*280-37del ENSP00000489799.1:n.*280-38_*280-37del
ENST00000637238.1:c.450-38_450-37del ENSP00000490756.1:n.450-38_450-37del
ENST00000637264.1:c.785-38_785-37del
ENST00000666746.1:c.1290-38_1290-37del
ENST00000670281.1:c.33-38_33-37del ENSP00000499709.1:n.33-38_33-37del
ENST00000672071.1:n.1911-38_1911-37del
ENST00000672923.2:n.1816-38_1816-37del
ENST00000268124.9:c.1713-38_1713-37del ENSP00000268124.5:n.1713-38_1713-37del
ENST00000442287.6:c.1713-38_1713-37del ENSP00000399851.2:n.1713-38_1713-37del
ENST00000526314.2:c.95-38_95-37del
ENST00000631044.2:c.*1096-38_*1096-37del ENSP00000486730.1:n.*1096-38_*1096-37del
NM_001126131.1:c.1713-38_1713-37del NP_001119603.1:n.1713-38_1713-37del
NM_002693.2:c.1713-38_1713-37del NP_002684.1:n.1713-38_1713-37del
NM_001126131.2:c.1713-38_1713-37del NP_001119603.1:n.1713-38_1713-37del
NM_002693.3:c.1713-38_1713-37del MANE Select NP_002684.1:n.1713-38_1713-37del