Canonical Allele Identifier: CA2805168148
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329223_89329238del , CM000677.2:g.89329223_89329238del GRCh38
NC_000015.9:g.89872454_89872469del , CM000677.1:g.89872454_89872469del GRCh37
NC_000015.8:g.87673458_87673473del NCBI36
NG_008218.1:g.10558_10573del
NG_008218.2:g.10558_10573del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.856-128_856-113del ENSP00000516154.1:n.856-128_856-113del
ENST00000268124.11:c.856-128_856-113del MANE Select ENSP00000268124.5:n.856-128_856-113del
ENST00000530292.3:c.457-128_457-113del ENSP00000432885.2:n.457-128_457-113del
ENST00000635986.2:c.856-128_856-113del ENSP00000490653.2:n.856-128_856-113del
ENST00000636774.1:c.856-128_856-113del ENSP00000489799.1:n.856-128_856-113del
ENST00000666746.1:c.513-128_513-113del
ENST00000672071.1:n.1054-128_1054-113del
ENST00000268124.9:c.856-128_856-113del ENSP00000268124.5:n.856-128_856-113del
ENST00000442287.6:c.856-128_856-113del ENSP00000399851.2:n.856-128_856-113del
ENST00000631044.2:c.*239-128_*239-113del ENSP00000486730.1:n.*239-128_*239-113del
NM_001126131.1:c.856-128_856-113del NP_001119603.1:n.856-128_856-113del
NM_002693.2:c.856-128_856-113del NP_002684.1:n.856-128_856-113del
NM_001126131.2:c.856-128_856-113del NP_001119603.1:n.856-128_856-113del
NM_002693.3:c.856-128_856-113del MANE Select NP_002684.1:n.856-128_856-113del