Canonical Allele Identifier: CA2580090404

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 1997222
• ClinVar RCV Id: RCV002807349

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333747_89333781dup , CM000677.2:g.89333747_89333781dup	GRCh38
NC_000015.9:g.89876978_89877012dup , CM000677.1:g.89876978_89877012dup	GRCh37
NC_000015.8:g.87677982_87678016dup	NCBI36
NG_008218.1:g.6017_6051dup
NG_008218.2:g.6017_6051dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.-25_10dup (POLG)	ENSP00000516154.1:p.Leu4ProfsTer10
ENST00000706918.1:c.31_65dup (POLGARF)	ENSP00000516626.1:p.Ala23SerfsTer?
ENST00000268124.11:c.-25_10dup (POLG) MANE Select	ENSP00000268124.5:p.Leu4ProfsTer10
ENST00000635986.2:c.-25_10dup (POLG)	ENSP00000490653.2:p.Leu4ProfsTer10
ENST00000636774.1:c.-25_10dup (POLG)	ENSP00000489799.1:p.Leu4ProfsTer10
ENST00000650303.2:c.31_65dup (POLG)	ENSP00000497242.2:p.Ala23SerfsTer?
ENST00000672071.1:n.174_208dup (POLG)
ENST00000268124.9:c.-25_10dup (POLG)	ENSP00000268124.5:p.Leu4ProfsTer10
ENST00000442287.6:c.-25_10dup (POLG)	ENSP00000399851.2:p.Leu4ProfsTer10
ENST00000631044.2:c.-25_10dup (POLG)	ENSP00000486730.1:p.Leu4ProfsTer10
NM_001126131.1:c.-25_10dup (POLG)	NP_001119603.1:p.Leu4ProfsTer10
NM_002693.2:c.-25_10dup (POLG)	NP_002684.1:p.Leu4ProfsTer10
NM_001126131.2:c.-25_10dup (POLG)	NP_001119603.1:p.Leu4ProfsTer10
NM_002693.3:c.-25_10dup (POLG) MANE Select	NP_002684.1:p.Leu4ProfsTer10