Canonical Allele Identifier: CA2805170446
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325754_89325759del , CM000677.2:g.89325754_89325759del GRCh38
NC_000015.9:g.89868985_89868990del , CM000677.1:g.89868985_89868990del GRCh37
NC_000015.8:g.87669989_87669994del NCBI36
NG_008218.1:g.14038_14043del
NG_008218.2:g.14038_14043del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1713-72_1713-67del ENSP00000516154.1:n.1713-72_1713-67del
ENST00000268124.11:c.1713-72_1713-67del MANE Select ENSP00000268124.5:n.1713-72_1713-67del
ENST00000530292.3:c.1314-72_1314-67del ENSP00000432885.2:n.1314-72_1314-67del
ENST00000635986.2:c.1713-72_1713-67del ENSP00000490653.2:n.1713-72_1713-67del
ENST00000636774.1:c.*280-72_*280-67del ENSP00000489799.1:n.*280-72_*280-67del
ENST00000637238.1:c.450-72_450-67del ENSP00000490756.1:n.450-72_450-67del
ENST00000637264.1:c.785-72_785-67del
ENST00000666746.1:c.1290-72_1290-67del
ENST00000670281.1:c.33-72_33-67del ENSP00000499709.1:n.33-72_33-67del
ENST00000672071.1:n.1911-72_1911-67del
ENST00000672923.2:n.1816-72_1816-67del
ENST00000268124.9:c.1713-72_1713-67del ENSP00000268124.5:n.1713-72_1713-67del
ENST00000442287.6:c.1713-72_1713-67del ENSP00000399851.2:n.1713-72_1713-67del
ENST00000526314.2:c.95-72_95-67del
ENST00000631044.2:c.*1096-72_*1096-67del ENSP00000486730.1:n.*1096-72_*1096-67del
NM_001126131.1:c.1713-72_1713-67del NP_001119603.1:n.1713-72_1713-67del
NM_002693.2:c.1713-72_1713-67del NP_002684.1:n.1713-72_1713-67del
NM_001126131.2:c.1713-72_1713-67del NP_001119603.1:n.1713-72_1713-67del
NM_002693.3:c.1713-72_1713-67del MANE Select NP_002684.1:n.1713-72_1713-67del