Canonical Allele Identifier: CA2194549289

Gene: POLG

Linked Data

• dbSNP Id: rs2055499226
• gnomAD v4: 15-89325303-T-TGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325306_89325307insGGTG , CM000677.2:g.89325306_89325307insGGTG	GRCh38
NC_000015.9:g.89868537_89868538insGGTG , CM000677.1:g.89868537_89868538insGGTG	GRCh37
NC_000015.8:g.87669541_87669542insGGTG	NCBI36
NG_008218.1:g.14492_14493insCCAC
NG_008218.2:g.14492_14493insCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+146_1949+147insCCAC	ENSP00000516154.1:n.1949+146_1949+147insCCAC
ENST00000268124.11:c.1949+146_1949+147insCCAC MANE Select	ENSP00000268124.5:n.1949+146_1949+147insCCAC
ENST00000530292.3:c.1550+146_1550+147insCCAC	ENSP00000432885.2:n.1550+146_1550+147insCCAC
ENST00000635986.2:c.1949+146_1949+147insCCAC	ENSP00000490653.2:n.1949+146_1949+147insCCAC
ENST00000636774.1:c.*516+146_*516+147insCCAC	ENSP00000489799.1:n.*516+146_*516+147insCCAC
ENST00000637238.1:c.646+186_646+187insCCAC	ENSP00000490756.1:n.646+186_646+187insCCAC
ENST00000637264.1:c.1021+146_1021+147insCCAC
ENST00000666746.1:c.1526+146_1526+147insCCAC
ENST00000670281.1:c.269+146_269+147insCCAC	ENSP00000499709.1:n.269+146_269+147insCCAC
ENST00000672071.1:n.2147+146_2147+147insCCAC
ENST00000672923.2:n.2052+146_2052+147insCCAC
ENST00000268124.9:c.1949+146_1949+147insCCAC	ENSP00000268124.5:n.1949+146_1949+147insCCAC
ENST00000442287.6:c.1949+146_1949+147insCCAC	ENSP00000399851.2:n.1949+146_1949+147insCCAC
ENST00000526314.2:c.331+146_331+147insCCAC
ENST00000526398.1:c.138+146_138+147insCCAC
ENST00000526573.1:n.35+146_35+147insCCAC
ENST00000532584.5:n.151+146_151+147insCCAC
ENST00000631044.2:c.*1332+146_*1332+147insCCAC	ENSP00000486730.1:n.*1332+146_*1332+147insCCAC
NM_001126131.1:c.1949+146_1949+147insCCAC	NP_001119603.1:n.1949+146_1949+147insCCAC
NM_002693.2:c.1949+146_1949+147insCCAC	NP_002684.1:n.1949+146_1949+147insCCAC
NM_001126131.2:c.1949+146_1949+147insCCAC	NP_001119603.1:n.1949+146_1949+147insCCAC
NM_002693.3:c.1949+146_1949+147insCCAC MANE Select	NP_002684.1:n.1949+146_1949+147insCCAC