Canonical Allele Identifier: CA2805168113

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328739_89328740insAG , CM000677.2:g.89328739_89328740insAG	GRCh38
NC_000015.9:g.89871970_89871971insAG , CM000677.1:g.89871970_89871971insAG	GRCh37
NC_000015.8:g.87672974_87672975insAG	NCBI36
NG_008218.1:g.11056_11057insCT
NG_008218.2:g.11056_11057insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1115_1116insCT	ENSP00000516154.1:p.Glu372AspfsTer8
ENST00000268124.11:c.1115_1116insCT MANE Select	ENSP00000268124.5:p.Glu372AspfsTer8
ENST00000530292.3:c.716_717insCT	ENSP00000432885.2:p.Glu239AspfsTer8
ENST00000635986.2:c.1115_1116insCT	ENSP00000490653.2:p.Glu372AspfsTer8
ENST00000636774.1:c.1115_1116insCT	ENSP00000489799.1:p.Glu372AspfsTer8
ENST00000637264.1:c.187_188insCT
ENST00000666746.1:c.772_773insCT
ENST00000672071.1:n.1313_1314insCT
ENST00000672923.2:n.112_113insCT
ENST00000268124.9:c.1115_1116insCT	ENSP00000268124.5:p.Glu372AspfsTer8
ENST00000442287.6:c.1115_1116insCT	ENSP00000399851.2:p.Glu372AspfsTer8
ENST00000631044.2:c.*498_*499insCT	ENSP00000486730.1:n.*498_*499insCT
NM_001126131.1:c.1115_1116insCT	NP_001119603.1:p.Glu372AspfsTer8
NM_002693.2:c.1115_1116insCT	NP_002684.1:p.Glu372AspfsTer8
NM_001126131.2:c.1115_1116insCT	NP_001119603.1:p.Glu372AspfsTer8
NM_002693.3:c.1115_1116insCT MANE Select	NP_002684.1:p.Glu372AspfsTer8