Canonical Allele Identifier: CA7725190

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 581378
• ClinVar RCV Id: RCV000705186 ; RCV000727691 ; RCV003985807
• dbSNP Id: rs780010436
• ExAC: 15:89876846 TGCTGCTGCTGCTGCC / T
• gnomAD v2: 15-89876846-TGCTGCTGCTGCTGCC-T
• gnomAD v3: 15-89333615-TGCTGCTGCTGCTGCC-T
• gnomAD v4: 15-89333615-TGCTGCTGCTGCTGCC-T
• MyVariant Identifiers: chr15:g.89876847_89876861del (hg19) ; chr15:g.89333616_89333630del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333618_89333632del , CM000677.2:g.89333618_89333632del	GRCh38
NC_000015.9:g.89876849_89876863del , CM000677.1:g.89876849_89876863del	GRCh37
NC_000015.8:g.87677853_87677867del	NCBI36
NG_008218.1:g.6166_6180del
NG_008218.2:g.6166_6180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.125_139del (POLG)	ENSP00000516154.1:p.Arg42_Gln46del
ENST00000706918.1:c.180_194del (POLGARF)	ENSP00000516626.1:p.Ala61_Ala65del
ENST00000268124.11:c.125_139del (POLG) MANE Select	ENSP00000268124.5:p.Arg42_Gln46del
ENST00000635986.2:c.125_139del (POLG)	ENSP00000490653.2:p.Arg42_Gln46del
ENST00000636774.1:c.125_139del (POLG)	ENSP00000489799.1:p.Arg42_Gln46del
ENST00000650303.2:c.180_194del (POLG)	ENSP00000497242.2:p.Ala61_Ala65del
ENST00000672071.1:n.323_337del (POLG)
ENST00000268124.9:c.125_139del (POLG)	ENSP00000268124.5:p.Arg42_Gln46del
ENST00000442287.6:c.125_139del (POLG)	ENSP00000399851.2:p.Arg42_Gln46del
ENST00000631044.2:c.125_139del (POLG)	ENSP00000486730.1:p.Arg42_Gln46del
NM_001126131.1:c.125_139del (POLG)	NP_001119603.1:p.Arg42_Gln46del
NM_002693.2:c.125_139del (POLG)	NP_002684.1:p.Arg42_Gln46del
NM_001126131.2:c.125_139del (POLG)	NP_001119603.1:p.Arg42_Gln46del
NM_002693.3:c.125_139del (POLG) MANE Select	NP_002684.1:p.Arg42_Gln46del