Canonical Allele Identifier: CA7725171

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 501355
• ClinVar RCV Id: RCV000633570 ; RCV000597328 ; RCV001081529 ; RCV002404611
• dbSNP Id: rs769735492
• ExAC: 15:89876819 GGCTGCTGTT / G
• gnomAD v2: 15-89876819-GGCTGCTGTT-G
• gnomAD v3: 15-89333588-GGCTGCTGTT-G
• gnomAD v4: 15-89333588-GGCTGCTGTT-G
• MyVariant Identifiers: chr15:g.89876823_89876831del (hg19) ; chr15:g.89876820_89876828del (hg19) ; chr15:g.89333590_89333598del (hg38) ; chr15:g.89333589_89333597del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333596_89333604del , CM000677.2:g.89333596_89333604del	GRCh38
NC_000015.9:g.89876827_89876835del , CM000677.1:g.89876827_89876835del	GRCh37
NC_000015.8:g.87677831_87677839del	NCBI36
NG_008218.1:g.6199_6207del
NG_008218.2:g.6199_6207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.158_166del (POLG)	ENSP00000516154.1:p.Gln53_Gln55del
ENST00000706918.1:c.213_221del (POLGARF)	ENSP00000516626.1:p.Thr72_Ala74del
ENST00000268124.11:c.158_166del (POLG) MANE Select	ENSP00000268124.5:p.Gln53_Gln55del
ENST00000635986.2:c.158_166del (POLG)	ENSP00000490653.2:p.Gln53_Gln55del
ENST00000636774.1:c.158_166del (POLG)	ENSP00000489799.1:p.Gln53_Gln55del
ENST00000650303.2:c.213_221del (POLG)	ENSP00000497242.2:p.Thr72_Ala74del
ENST00000672071.1:n.356_364del (POLG)
ENST00000268124.9:c.158_166del (POLG)	ENSP00000268124.5:p.Gln53_Gln55del
ENST00000442287.6:c.158_166del (POLG)	ENSP00000399851.2:p.Gln53_Gln55del
ENST00000631044.2:c.158_166del (POLG)	ENSP00000486730.1:p.Gln53_Gln55del
NM_001126131.1:c.158_166del (POLG)	NP_001119603.1:p.Gln53_Gln55del
NM_002693.2:c.158_166del (POLG)	NP_002684.1:p.Gln53_Gln55del
NM_001126131.2:c.158_166del (POLG)	NP_001119603.1:p.Gln53_Gln55del
NM_002693.3:c.158_166del (POLG) MANE Select	NP_002684.1:p.Gln53_Gln55del