Canonical Allele Identifier: CA915946109
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333597_89333598insTGC , CM000677.2:g.89333597_89333598insTGC GRCh38
NC_000015.9:g.89876828_89876829insTGC , CM000677.1:g.89876828_89876829insTGC GRCh37
NC_000015.8:g.87677832_87677833insTGC NCBI36
NG_008218.1:g.6198_6199insGCA
NG_008218.2:g.6198_6199insGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.157_158insGCA (POLG) ENSP00000516154.1:p.Gln53delinsArgLys
ENST00000706918.1:c.212_213insGCA (POLGARF) ENSP00000516626.1:p.Ala71_Thr72insGln
ENST00000268124.11:c.157_158insGCA (POLG) MANE Select ENSP00000268124.5:p.Gln53delinsArgLys
ENST00000635986.2:c.157_158insGCA (POLG) ENSP00000490653.2:p.Gln53delinsArgLys
ENST00000636774.1:c.157_158insGCA (POLG) ENSP00000489799.1:p.Gln53delinsArgLys
ENST00000650303.2:c.212_213insGCA (POLG) ENSP00000497242.2:p.Ala71_Thr72insGln
ENST00000672071.1:n.355_356insGCA (POLG)
ENST00000268124.9:c.157_158insGCA (POLG) ENSP00000268124.5:p.Gln53delinsArgLys
ENST00000442287.6:c.157_158insGCA (POLG) ENSP00000399851.2:p.Gln53delinsArgLys
ENST00000631044.2:c.157_158insGCA (POLG) ENSP00000486730.1:p.Gln53delinsArgLys
NM_001126131.1:c.157_158insGCA (POLG) NP_001119603.1:p.Gln53delinsArgLys
NM_002693.2:c.157_158insGCA (POLG) NP_002684.1:p.Gln53delinsArgLys
NM_001126131.2:c.157_158insGCA (POLG) NP_001119603.1:p.Gln53delinsArgLys
NM_002693.3:c.157_158insGCA (POLG) MANE Select NP_002684.1:p.Gln53delinsArgLys