Canonical Allele Identifier: CA2194573306

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 1000305
• ClinVar RCV Id: RCV001296418
• dbSNP Id: rs1555454333
• gnomAD v4: 15-89333596-T-TTGTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333598_89333599insTTGCTG , CM000677.2:g.89333598_89333599insTTGCTG	GRCh38
NC_000015.9:g.89876829_89876830insTTGCTG , CM000677.1:g.89876829_89876830insTTGCTG	GRCh37
NC_000015.8:g.87677833_87677834insTTGCTG	NCBI36
NG_008218.1:g.6199_6200insGCAACA
NG_008218.2:g.6199_6200insGCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.158_159insGCAACA (POLG)	ENSP00000516154.1:p.Gln53_Gln54insGlnGln
ENST00000706918.1:c.213_214insGCAACA (POLGARF)	ENSP00000516626.1:p.Ala71_Thr72insAlaThr
ENST00000268124.11:c.158_159insGCAACA (POLG) MANE Select	ENSP00000268124.5:p.Gln53_Gln54insGlnGln
ENST00000635986.2:c.158_159insGCAACA (POLG)	ENSP00000490653.2:p.Gln53_Gln54insGlnGln
ENST00000636774.1:c.158_159insGCAACA (POLG)	ENSP00000489799.1:p.Gln53_Gln54insGlnGln
ENST00000650303.2:c.213_214insGCAACA (POLG)	ENSP00000497242.2:p.Ala71_Thr72insAlaThr
ENST00000672071.1:n.356_357insGCAACA (POLG)
ENST00000268124.9:c.158_159insGCAACA (POLG)	ENSP00000268124.5:p.Gln53_Gln54insGlnGln
ENST00000442287.6:c.158_159insGCAACA (POLG)	ENSP00000399851.2:p.Gln53_Gln54insGlnGln
ENST00000631044.2:c.158_159insGCAACA (POLG)	ENSP00000486730.1:p.Gln53_Gln54insGlnGln
NM_001126131.1:c.158_159insGCAACA (POLG)	NP_001119603.1:p.Gln53_Gln54insGlnGln
NM_002693.2:c.158_159insGCAACA (POLG)	NP_002684.1:p.Gln53_Gln54insGlnGln
NM_001126131.2:c.158_159insGCAACA (POLG)	NP_001119603.1:p.Gln53_Gln54insGlnGln
NM_002693.3:c.158_159insGCAACA (POLG) MANE Select	NP_002684.1:p.Gln53_Gln54insGlnGln