Canonical Allele Identifier: CA2630251929

Gene: POLG

Linked Data

• gnomAD v4: 15-89325301-T-TGTGTGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325308_89325309insGGTGTGTG , CM000677.2:g.89325308_89325309insGGTGTGTG	GRCh38
NC_000015.9:g.89868539_89868540insGGTGTGTG , CM000677.1:g.89868539_89868540insGGTGTGTG	GRCh37
NC_000015.8:g.87669543_87669544insGGTGTGTG	NCBI36
NG_008218.1:g.14494_14495insCCACACAC
NG_008218.2:g.14494_14495insCCACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+148_1949+149insCCACACAC	ENSP00000516154.1:n.1949+148_1949+149insCCACACAC
ENST00000268124.11:c.1949+148_1949+149insCCACACAC MANE Select	ENSP00000268124.5:n.1949+148_1949+149insCCACACAC
ENST00000530292.3:c.1550+148_1550+149insCCACACAC	ENSP00000432885.2:n.1550+148_1550+149insCCACACAC
ENST00000635986.2:c.1949+148_1949+149insCCACACAC	ENSP00000490653.2:n.1949+148_1949+149insCCACACAC
ENST00000636774.1:c.*516+148_*516+149insCCACACAC	ENSP00000489799.1:n.*516+148_*516+149insCCACACAC
ENST00000637238.1:c.646+188_646+189insCCACACAC	ENSP00000490756.1:n.646+188_646+189insCCACACAC
ENST00000637264.1:c.1021+148_1021+149insCCACACAC
ENST00000666746.1:c.1526+148_1526+149insCCACACAC
ENST00000670281.1:c.269+148_269+149insCCACACAC	ENSP00000499709.1:n.269+148_269+149insCCACACAC
ENST00000672071.1:n.2147+148_2147+149insCCACACAC
ENST00000672923.2:n.2052+148_2052+149insCCACACAC
ENST00000268124.9:c.1949+148_1949+149insCCACACAC	ENSP00000268124.5:n.1949+148_1949+149insCCACACAC
ENST00000442287.6:c.1949+148_1949+149insCCACACAC	ENSP00000399851.2:n.1949+148_1949+149insCCACACAC
ENST00000526314.2:c.331+148_331+149insCCACACAC
ENST00000526398.1:c.138+148_138+149insCCACACAC
ENST00000526573.1:n.35+148_35+149insCCACACAC
ENST00000532584.5:n.151+148_151+149insCCACACAC
ENST00000631044.2:c.*1332+148_*1332+149insCCACACAC	ENSP00000486730.1:n.*1332+148_*1332+149insCCACACAC
NM_001126131.1:c.1949+148_1949+149insCCACACAC	NP_001119603.1:n.1949+148_1949+149insCCACACAC
NM_002693.2:c.1949+148_1949+149insCCACACAC	NP_002684.1:n.1949+148_1949+149insCCACACAC
NM_001126131.2:c.1949+148_1949+149insCCACACAC	NP_001119603.1:n.1949+148_1949+149insCCACACAC
NM_002693.3:c.1949+148_1949+149insCCACACAC MANE Select	NP_002684.1:n.1949+148_1949+149insCCACACAC