Canonical Allele Identifier: CA2805168127
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329152_89329155del , CM000677.2:g.89329152_89329155del GRCh38
NC_000015.9:g.89872383_89872386del , CM000677.1:g.89872383_89872386del GRCh37
NC_000015.8:g.87673387_87673390del NCBI36
NG_008218.1:g.10641_10644del
NG_008218.2:g.10641_10644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.856-45_856-42del ENSP00000516154.1:n.856-45_856-42del
ENST00000268124.11:c.856-45_856-42del MANE Select ENSP00000268124.5:n.856-45_856-42del
ENST00000530292.3:c.457-45_457-42del ENSP00000432885.2:n.457-45_457-42del
ENST00000635986.2:c.856-45_856-42del ENSP00000490653.2:n.856-45_856-42del
ENST00000636774.1:c.856-45_856-42del ENSP00000489799.1:n.856-45_856-42del
ENST00000666746.1:c.513-45_513-42del
ENST00000672071.1:n.1054-45_1054-42del
ENST00000268124.9:c.856-45_856-42del ENSP00000268124.5:n.856-45_856-42del
ENST00000442287.6:c.856-45_856-42del ENSP00000399851.2:n.856-45_856-42del
ENST00000631044.2:c.*239-45_*239-42del ENSP00000486730.1:n.*239-45_*239-42del
NM_001126131.1:c.856-45_856-42del NP_001119603.1:n.856-45_856-42del
NM_002693.2:c.856-45_856-42del NP_002684.1:n.856-45_856-42del
NM_001126131.2:c.856-45_856-42del NP_001119603.1:n.856-45_856-42del
NM_002693.3:c.856-45_856-42del MANE Select NP_002684.1:n.856-45_856-42del