Canonical Allele Identifier: CA2630252002

Gene: POLG

Linked Data

• gnomAD v4: 15-89325316-T-TGTGTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325316_89325317insGTGTGTA , CM000677.2:g.89325316_89325317insGTGTGTA	GRCh38
NC_000015.9:g.89868547_89868548insGTGTGTA , CM000677.1:g.89868547_89868548insGTGTGTA	GRCh37
NC_000015.8:g.87669551_87669552insGTGTGTA	NCBI36
NG_008218.1:g.14479_14480insTACACAC
NG_008218.2:g.14479_14480insTACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+133_1949+134insTACACAC	ENSP00000516154.1:n.1949+133_1949+134insTACACAC
ENST00000268124.11:c.1949+133_1949+134insTACACAC MANE Select	ENSP00000268124.5:n.1949+133_1949+134insTACACAC
ENST00000530292.3:c.1550+133_1550+134insTACACAC	ENSP00000432885.2:n.1550+133_1550+134insTACACAC
ENST00000635986.2:c.1949+133_1949+134insTACACAC	ENSP00000490653.2:n.1949+133_1949+134insTACACAC
ENST00000636774.1:c.*516+133_*516+134insTACACAC	ENSP00000489799.1:n.*516+133_*516+134insTACACAC
ENST00000637238.1:c.646+173_646+174insTACACAC	ENSP00000490756.1:n.646+173_646+174insTACACAC
ENST00000637264.1:c.1021+133_1021+134insTACACAC
ENST00000666746.1:c.1526+133_1526+134insTACACAC
ENST00000670281.1:c.269+133_269+134insTACACAC	ENSP00000499709.1:n.269+133_269+134insTACACAC
ENST00000672071.1:n.2147+133_2147+134insTACACAC
ENST00000672923.2:n.2052+133_2052+134insTACACAC
ENST00000268124.9:c.1949+133_1949+134insTACACAC	ENSP00000268124.5:n.1949+133_1949+134insTACACAC
ENST00000442287.6:c.1949+133_1949+134insTACACAC	ENSP00000399851.2:n.1949+133_1949+134insTACACAC
ENST00000526314.2:c.331+133_331+134insTACACAC
ENST00000526398.1:c.138+133_138+134insTACACAC
ENST00000526573.1:n.35+133_35+134insTACACAC
ENST00000532584.5:n.151+133_151+134insTACACAC
ENST00000631044.2:c.*1332+133_*1332+134insTACACAC	ENSP00000486730.1:n.*1332+133_*1332+134insTACACAC
NM_001126131.1:c.1949+133_1949+134insTACACAC	NP_001119603.1:n.1949+133_1949+134insTACACAC
NM_002693.2:c.1949+133_1949+134insTACACAC	NP_002684.1:n.1949+133_1949+134insTACACAC
NM_001126131.2:c.1949+133_1949+134insTACACAC	NP_001119603.1:n.1949+133_1949+134insTACACAC
NM_002693.3:c.1949+133_1949+134insTACACAC MANE Select	NP_002684.1:n.1949+133_1949+134insTACACAC