Canonical Allele Identifier: CA972590046

Gene: POLG

Linked Data

• dbSNP Id: rs1457702738
• gnomAD v3: 15-89325295-A-AGG
• gnomAD v4: 15-89325295-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325296_89325297insGG , CM000677.2:g.89325296_89325297insGG	GRCh38
NC_000015.9:g.89868527_89868528insGG , CM000677.1:g.89868527_89868528insGG	GRCh37
NC_000015.8:g.87669531_87669532insGG	NCBI36
NG_008218.1:g.14500_14501insCC
NG_008218.2:g.14500_14501insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+154_1949+155insCC	ENSP00000516154.1:n.1949+154_1949+155insCC
ENST00000268124.11:c.1949+154_1949+155insCC MANE Select	ENSP00000268124.5:n.1949+154_1949+155insCC
ENST00000530292.3:c.1550+154_1550+155insCC	ENSP00000432885.2:n.1550+154_1550+155insCC
ENST00000635986.2:c.1949+154_1949+155insCC	ENSP00000490653.2:n.1949+154_1949+155insCC
ENST00000636774.1:c.*516+154_*516+155insCC	ENSP00000489799.1:n.*516+154_*516+155insCC
ENST00000637238.1:c.646+194_646+195insCC	ENSP00000490756.1:n.646+194_646+195insCC
ENST00000637264.1:c.1021+154_1021+155insCC
ENST00000666746.1:c.1526+154_1526+155insCC
ENST00000670281.1:c.269+154_269+155insCC	ENSP00000499709.1:n.269+154_269+155insCC
ENST00000672071.1:n.2147+154_2147+155insCC
ENST00000672923.2:n.2052+154_2052+155insCC
ENST00000268124.9:c.1949+154_1949+155insCC	ENSP00000268124.5:n.1949+154_1949+155insCC
ENST00000442287.6:c.1949+154_1949+155insCC	ENSP00000399851.2:n.1949+154_1949+155insCC
ENST00000526314.2:c.331+154_331+155insCC
ENST00000526398.1:c.138+154_138+155insCC
ENST00000526573.1:n.35+154_35+155insCC
ENST00000532584.5:n.151+154_151+155insCC
ENST00000631044.2:c.*1332+154_*1332+155insCC	ENSP00000486730.1:n.*1332+154_*1332+155insCC
NM_001126131.1:c.1949+154_1949+155insCC	NP_001119603.1:n.1949+154_1949+155insCC
NM_002693.2:c.1949+154_1949+155insCC	NP_002684.1:n.1949+154_1949+155insCC
NM_001126131.2:c.1949+154_1949+155insCC	NP_001119603.1:n.1949+154_1949+155insCC
NM_002693.3:c.1949+154_1949+155insCC MANE Select	NP_002684.1:n.1949+154_1949+155insCC