Canonical Allele Identifier: CA2838267716

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318710dup , CM000677.2:g.89318710dup	GRCh38
NC_000015.9:g.89861941dup , CM000677.1:g.89861941dup	GRCh37
NC_000015.8:g.87662945dup	NCBI36
NG_008218.1:g.21086dup
NG_011736.1:g.79748dup , LRG_500:g.79748dup
NG_008218.2:g.21086dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3313dup	ENSP00000516154.1:p.Ala1105GlyfsTer3
ENST00000268124.11:c.3313dup MANE Select	ENSP00000268124.5:p.Ala1105GlyfsTer3
ENST00000530292.3:c.2914dup	ENSP00000432885.2:p.Ala972GlyfsTer3
ENST00000635986.2:c.*383dup	ENSP00000490653.2:n.*383dup
ENST00000636774.1:c.*1880dup	ENSP00000489799.1:n.*1880dup
ENST00000637238.1:c.2122dup	ENSP00000490756.1:n.2122dup
ENST00000637264.1:c.2385dup
ENST00000666746.1:c.2890dup
ENST00000672071.1:n.3511dup
ENST00000672695.1:n.490dup
ENST00000672923.2:n.3313dup
ENST00000268124.9:c.3313dup	ENSP00000268124.5:p.Ala1105GlyfsTer3
ENST00000442287.6:c.3313dup	ENSP00000399851.2:p.Ala1105GlyfsTer3
ENST00000530292.2:c.397dup	ENSP00000432885.1:p.Ala133GlyfsTer3
ENST00000631044.2:c.*2737dup	ENSP00000486730.1:n.*2737dup
NM_001126131.1:c.3313dup	NP_001119603.1:p.Ala1105GlyfsTer3
NM_002693.2:c.3313dup	NP_002684.1:p.Ala1105GlyfsTer3
NM_001126131.2:c.3313dup	NP_001119603.1:p.Ala1105GlyfsTer3
NM_002693.3:c.3313dup MANE Select	NP_002684.1:p.Ala1105GlyfsTer3