Canonical Allele Identifier: CA2999041553

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323434dup , CM000677.2:g.89323434dup	GRCh38
NC_000015.9:g.89866665dup , CM000677.1:g.89866665dup	GRCh37
NC_000015.8:g.87667669dup	NCBI36
NG_008218.1:g.16362dup
NG_008218.2:g.16362dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2235dup	ENSP00000516154.1:p.Gly746TrpfsTer13
ENST00000268124.11:c.2235dup MANE Select	ENSP00000268124.5:p.Gly746TrpfsTer13
ENST00000530292.3:c.1836dup	ENSP00000432885.2:p.Gly613TrpfsTer13
ENST00000635986.2:c.2235dup	ENSP00000490653.2:p.Gly746TrpfsTer13
ENST00000636774.1:c.*802dup	ENSP00000489799.1:n.*802dup
ENST00000637238.1:c.932dup	ENSP00000490756.1:n.932dup
ENST00000637264.1:c.1307dup
ENST00000666746.1:c.1812dup
ENST00000670281.1:c.555dup	ENSP00000499709.1:p.Gly186TrpfsTer13
ENST00000672071.1:n.2433dup
ENST00000672923.2:n.2338dup
ENST00000268124.9:c.2235dup	ENSP00000268124.5:p.Gly746TrpfsTer13
ENST00000442287.6:c.2235dup	ENSP00000399851.2:p.Gly746TrpfsTer13
ENST00000526314.2:c.539+381dup
ENST00000526398.1:c.384dup
ENST00000528881.2:c.4dup
ENST00000532584.5:n.437dup
ENST00000631044.2:c.*1659dup	ENSP00000486730.1:n.*1659dup
NM_001126131.1:c.2235dup	NP_001119603.1:p.Gly746TrpfsTer13
NM_002693.2:c.2235dup	NP_002684.1:p.Gly746TrpfsTer13
NM_001126131.2:c.2235dup	NP_001119603.1:p.Gly746TrpfsTer13
NM_002693.3:c.2235dup MANE Select	NP_002684.1:p.Gly746TrpfsTer13