Canonical Allele Identifier: CA2194561840

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328781_89328782delinsCT , CM000677.2:g.89328781_89328782delinsCT	GRCh38
NC_000015.9:g.89872012_89872013delinsCT , CM000677.1:g.89872012_89872013delinsCT	GRCh37
NC_000015.8:g.87673016_87673017delinsCT	NCBI36
NG_008218.1:g.11014_11015delinsAG
NG_008218.2:g.11014_11015delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1073_1074delinsAG	ENSP00000516154.1:p.Glu358=
ENST00000268124.11:c.1073_1074delinsAG MANE Select	ENSP00000268124.5:p.Glu358=
ENST00000530292.3:c.674_675delinsAG	ENSP00000432885.2:p.Glu225=
ENST00000635986.2:c.1073_1074delinsAG	ENSP00000490653.2:p.Glu358=
ENST00000636774.1:c.1073_1074delinsAG	ENSP00000489799.1:p.Glu358=
ENST00000637264.1:c.145_146delinsAG
ENST00000666746.1:c.730_731delinsAG
ENST00000672071.1:n.1271_1272delinsAG
ENST00000672923.2:n.70_71delinsAG
ENST00000268124.9:c.1073_1074delinsAG	ENSP00000268124.5:p.Glu358=
ENST00000442287.6:c.1073_1074delinsAG	ENSP00000399851.2:p.Glu358=
ENST00000631044.2:c.*456_*457delinsAG	ENSP00000486730.1:n.*456_*457delinsAG
NM_001126131.1:c.1073_1074delinsAG	NP_001119603.1:p.Glu358=
NM_002693.2:c.1073_1074delinsAG	NP_002684.1:p.Glu358=
NM_001126131.2:c.1073_1074delinsAG	NP_001119603.1:p.Glu358=
NM_002693.3:c.1073_1074delinsAG MANE Select	NP_002684.1:p.Glu358=