Canonical Allele Identifier: CA2630253957

Gene: POLG

Linked Data

• gnomAD v4: 15-89327244-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327245dup , CM000677.2:g.89327245dup	GRCh38
NC_000015.9:g.89870476dup , CM000677.1:g.89870476dup	GRCh37
NC_000015.8:g.87671480dup	NCBI36
NG_008218.1:g.12551dup
NG_008218.2:g.12551dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1355dup	ENSP00000516154.1:p.Tyr452Ter
ENST00000268124.11:c.1355dup MANE Select	ENSP00000268124.5:p.Tyr452Ter
ENST00000530292.3:c.956dup	ENSP00000432885.2:p.Tyr319Ter
ENST00000635986.2:c.1355dup	ENSP00000490653.2:p.Tyr452Ter
ENST00000636774.1:c.1355dup	ENSP00000489799.1:p.Tyr452Ter
ENST00000637238.1:c.92dup	ENSP00000490756.1:p.Tyr31Ter
ENST00000637264.1:c.427dup
ENST00000666746.1:c.932dup
ENST00000672071.1:n.1553dup
ENST00000672923.2:n.1458dup
ENST00000268124.9:c.1355dup	ENSP00000268124.5:p.Tyr452Ter
ENST00000442287.6:c.1355dup	ENSP00000399851.2:p.Tyr452Ter
ENST00000532363.2:n.213dup
ENST00000631044.2:c.*738dup	ENSP00000486730.1:n.*738dup
NM_001126131.1:c.1355dup	NP_001119603.1:p.Tyr452Ter
NM_002693.2:c.1355dup	NP_002684.1:p.Tyr452Ter
NM_001126131.2:c.1355dup	NP_001119603.1:p.Tyr452Ter
NM_002693.3:c.1355dup MANE Select	NP_002684.1:p.Tyr452Ter