Canonical Allele Identifier: CA2630251945

Gene: POLG

Linked Data

• gnomAD v4: 15-89325303-T-TGTGTGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325310_89325311insGGTGTGTG , CM000677.2:g.89325310_89325311insGGTGTGTG	GRCh38
NC_000015.9:g.89868541_89868542insGGTGTGTG , CM000677.1:g.89868541_89868542insGGTGTGTG	GRCh37
NC_000015.8:g.87669545_87669546insGGTGTGTG	NCBI36
NG_008218.1:g.14492_14493insCCACACAC
NG_008218.2:g.14492_14493insCCACACAC

Transcript Alleles

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