Canonical Allele Identifier: CA295634

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 167522
• ClinVar RCV Id: RCV000153756 ; RCV000676330 ; RCV000714693 ; RCV000758545
• dbSNP Id: rs41550117
• ExAC: 15:89876827 T / TTGC
• gnomAD v2: 15-89876827-T-TTGC
• gnomAD v3: 15-89333596-T-TTGC
• gnomAD v4: 15-89333596-T-TTGC
• COSMIC: COSM1323767 ; COSM5445983
• MyVariant Identifiers: chr15:g.89876828_89876830dup (hg19) ; chr15:g.89876828_89876830dupTGC (hg19) ; chr15:g.89876845_89876846insTGC (hg19) ; chr15:g.89876836_89876837insTGC (hg19) ; chr15:g.89876830_89876831insTGC (hg19) ; chr15:g.89876827_89876828insTGC (hg19) ; chr15:g.89333597_89333599dupTGC (hg38) ; chr15:g.89333605_89333606insTGC (hg38) ; chr15:g.89333599_89333600insTGC (hg38) ; chr15:g.89333596_89333597insTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333627_89333629dup , CM000677.2:g.89333627_89333629dup	GRCh38
NC_000015.9:g.89876858_89876860dup , CM000677.1:g.89876858_89876860dup	GRCh37
NC_000015.8:g.87677862_87677864dup	NCBI36
NG_008218.1:g.6197_6199dup
NG_008218.2:g.6197_6199dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.156_158dup (POLG)	ENSP00000516154.1:p.Gln53_Gln54insGln
ENST00000706918.1:c.211_213dup (POLGARF)	ENSP00000516626.1:p.Ala71_Thr72insAla
ENST00000268124.11:c.156_158dup (POLG) MANE Select	ENSP00000268124.5:p.Gln53_Gln54insGln
ENST00000635986.2:c.156_158dup (POLG)	ENSP00000490653.2:p.Gln53_Gln54insGln
ENST00000636774.1:c.156_158dup (POLG)	ENSP00000489799.1:p.Gln53_Gln54insGln
ENST00000650303.2:c.211_213dup (POLG)	ENSP00000497242.2:p.Ala71_Thr72insAla
ENST00000672071.1:n.354_356dup (POLG)
ENST00000268124.9:c.156_158dup (POLG)	ENSP00000268124.5:p.Gln53_Gln54insGln
ENST00000442287.6:c.156_158dup (POLG)	ENSP00000399851.2:p.Gln53_Gln54insGln
ENST00000631044.2:c.156_158dup (POLG)	ENSP00000486730.1:p.Gln53_Gln54insGln
NM_001126131.1:c.156_158dup (POLG)	NP_001119603.1:p.Gln53_Gln54insGln
NM_002693.2:c.156_158dup (POLG)	NP_002684.1:p.Gln53_Gln54insGln
NM_001126131.2:c.156_158dup (POLG)	NP_001119603.1:p.Gln53_Gln54insGln
NM_002693.3:c.156_158dup (POLG) MANE Select	NP_002684.1:p.Gln53_Gln54insGln