Canonical Allele Identifier: CA2999041552

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323431dup , CM000677.2:g.89323431dup	GRCh38
NC_000015.9:g.89866662dup , CM000677.1:g.89866662dup	GRCh37
NC_000015.8:g.87667666dup	NCBI36
NG_008218.1:g.16365dup
NG_008218.2:g.16365dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2238dup	ENSP00000516154.1:p.Cys747LeufsTer12
ENST00000268124.11:c.2238dup MANE Select	ENSP00000268124.5:p.Cys747LeufsTer12
ENST00000530292.3:c.1839dup	ENSP00000432885.2:p.Cys614LeufsTer12
ENST00000635986.2:c.2238dup	ENSP00000490653.2:p.Cys747LeufsTer12
ENST00000636774.1:c.*805dup	ENSP00000489799.1:n.*805dup
ENST00000637238.1:c.935dup	ENSP00000490756.1:n.935dup
ENST00000637264.1:c.1310dup
ENST00000666746.1:c.1815dup
ENST00000670281.1:c.558dup	ENSP00000499709.1:p.Cys187LeufsTer12
ENST00000672071.1:n.2436dup
ENST00000672923.2:n.2341dup
ENST00000268124.9:c.2238dup	ENSP00000268124.5:p.Cys747LeufsTer12
ENST00000442287.6:c.2238dup	ENSP00000399851.2:p.Cys747LeufsTer12
ENST00000526314.2:c.539+384dup
ENST00000526398.1:c.387dup
ENST00000528881.2:c.7dup
ENST00000532584.5:n.440dup
ENST00000631044.2:c.*1662dup	ENSP00000486730.1:n.*1662dup
NM_001126131.1:c.2238dup	NP_001119603.1:p.Cys747LeufsTer12
NM_002693.2:c.2238dup	NP_002684.1:p.Cys747LeufsTer12
NM_001126131.2:c.2238dup	NP_001119603.1:p.Cys747LeufsTer12
NM_002693.3:c.2238dup MANE Select	NP_002684.1:p.Cys747LeufsTer12