Canonical Allele Identifier: CA7725170

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 753869
• ClinVar RCV Id: RCV000931146
• dbSNP Id: rs776709929
• ExAC: 15:89876818 A / AGGCTGCTGT
• gnomAD v2: 15-89876818-A-AGGCTGCTGT
• gnomAD v4: 15-89333587-A-AGGCTGCTGT
• MyVariant Identifiers: chr15:g.89876818_89876819insGGCTGCTGT (hg19) ; chr15:g.89333587_89333588insGGCTGCTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333588_89333596dup , CM000677.2:g.89333588_89333596dup	GRCh38
NC_000015.9:g.89876819_89876827dup , CM000677.1:g.89876819_89876827dup	GRCh37
NC_000015.8:g.87677823_87677831dup	NCBI36
NG_008218.1:g.6200_6208dup
NG_008218.2:g.6200_6208dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.159_167dup (POLG)	ENSP00000516154.1:p.Pro56_Gln57insGlnGlnPro
ENST00000706918.1:c.214_222dup (POLGARF)	ENSP00000516626.1:p.Ala74_Ser75insThrAlaAla
ENST00000268124.11:c.159_167dup (POLG) MANE Select	ENSP00000268124.5:p.Pro56_Gln57insGlnGlnPro
ENST00000635986.2:c.159_167dup (POLG)	ENSP00000490653.2:p.Pro56_Gln57insGlnGlnPro
ENST00000636774.1:c.159_167dup (POLG)	ENSP00000489799.1:p.Pro56_Gln57insGlnGlnPro
ENST00000650303.2:c.214_222dup (POLG)	ENSP00000497242.2:p.Ala74_Ser75insThrAlaAla
ENST00000672071.1:n.357_365dup (POLG)
ENST00000268124.9:c.159_167dup (POLG)	ENSP00000268124.5:p.Pro56_Gln57insGlnGlnPro
ENST00000442287.6:c.159_167dup (POLG)	ENSP00000399851.2:p.Pro56_Gln57insGlnGlnPro
ENST00000631044.2:c.159_167dup (POLG)	ENSP00000486730.1:p.Pro56_Gln57insGlnGlnPro
NM_001126131.1:c.159_167dup (POLG)	NP_001119603.1:p.Pro56_Gln57insGlnGlnPro
NM_002693.2:c.159_167dup (POLG)	NP_002684.1:p.Pro56_Gln57insGlnGlnPro
NM_001126131.2:c.159_167dup (POLG)	NP_001119603.1:p.Pro56_Gln57insGlnGlnPro
NM_002693.3:c.159_167dup (POLG) MANE Select	NP_002684.1:p.Pro56_Gln57insGlnGlnPro