Canonical Allele Identifier: CA295636

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 167523
• ClinVar RCV Id: RCV000153757 ; RCV000676331 ; RCV001080820
• dbSNP Id: rs41550117
• ExAC: 15:89876827 TTGCTGC / T
• gnomAD v2: 15-89876827-TTGCTGC-T
• gnomAD v3: 15-89333596-TTGCTGC-T
• gnomAD v4: 15-89333596-TTGCTGC-T
• COSMIC: COSM5850038
• MyVariant Identifiers: chr15:g.89876831_89876836del (hg19) ; chr15:g.89876828_89876833del (hg19) ; chr15:g.89333600_89333605del (hg38) ; chr15:g.89333597_89333602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333624_89333629del , CM000677.2:g.89333624_89333629del	GRCh38
NC_000015.9:g.89876855_89876860del , CM000677.1:g.89876855_89876860del	GRCh37
NC_000015.8:g.87677859_87677864del	NCBI36
NG_008218.1:g.6194_6199del
NG_008218.2:g.6194_6199del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.153_158del (POLG)	ENSP00000516154.1:p.Gln52_Gln53del
ENST00000706918.1:c.208_213del (POLGARF)	ENSP00000516626.1:p.Ala70_Ala71del
ENST00000268124.11:c.153_158del (POLG) MANE Select	ENSP00000268124.5:p.Gln52_Gln53del
ENST00000635986.2:c.153_158del (POLG)	ENSP00000490653.2:p.Gln52_Gln53del
ENST00000636774.1:c.153_158del (POLG)	ENSP00000489799.1:p.Gln52_Gln53del
ENST00000650303.2:c.208_213del (POLG)	ENSP00000497242.2:p.Ala70_Ala71del
ENST00000672071.1:n.351_356del (POLG)
ENST00000268124.9:c.153_158del (POLG)	ENSP00000268124.5:p.Gln52_Gln53del
ENST00000442287.6:c.153_158del (POLG)	ENSP00000399851.2:p.Gln52_Gln53del
ENST00000631044.2:c.153_158del (POLG)	ENSP00000486730.1:p.Gln52_Gln53del
NM_001126131.1:c.153_158del (POLG)	NP_001119603.1:p.Gln52_Gln53del
NM_002693.2:c.153_158del (POLG)	NP_002684.1:p.Gln52_Gln53del
NM_001126131.2:c.153_158del (POLG)	NP_001119603.1:p.Gln52_Gln53del
NM_002693.3:c.153_158del (POLG) MANE Select	NP_002684.1:p.Gln52_Gln53del