Canonical Allele Identifier: CA972589884

Gene: POLG

Linked Data

• dbSNP Id: rs1567190057
• gnomAD v3: 15-89325275-A-AGTGAGTGAGT
• gnomAD v4: 15-89325275-A-AGTGAGTGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325276_89325277insTGAGTGAGTG , CM000677.2:g.89325276_89325277insTGAGTGAGTG	GRCh38
NC_000015.9:g.89868507_89868508insTGAGTGAGTG , CM000677.1:g.89868507_89868508insTGAGTGAGTG	GRCh37
NC_000015.8:g.87669511_87669512insTGAGTGAGTG	NCBI36
NG_008218.1:g.14520_14521insACTCACTCAC
NG_008218.2:g.14520_14521insACTCACTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+174_1949+175insACTCACTCAC	ENSP00000516154.1:n.1949+174_1949+175insACTCACTCAC
ENST00000268124.11:c.1949+174_1949+175insACTCACTCAC MANE Select	ENSP00000268124.5:n.1949+174_1949+175insACTCACTCAC
ENST00000530292.3:c.1550+174_1550+175insACTCACTCAC	ENSP00000432885.2:n.1550+174_1550+175insACTCACTCAC
ENST00000635986.2:c.1949+174_1949+175insACTCACTCAC	ENSP00000490653.2:n.1949+174_1949+175insACTCACTCAC
ENST00000636774.1:c.*516+174_*516+175insACTCACTCAC	ENSP00000489799.1:n.*516+174_*516+175insACTCACTCAC
ENST00000637238.1:c.646+214_646+215insACTCACTCAC	ENSP00000490756.1:n.646+214_646+215insACTCACTCAC
ENST00000637264.1:c.1021+174_1021+175insACTCACTCAC
ENST00000666746.1:c.1526+174_1526+175insACTCACTCAC
ENST00000670281.1:c.269+174_269+175insACTCACTCAC	ENSP00000499709.1:n.269+174_269+175insACTCACTCAC
ENST00000672071.1:n.2147+174_2147+175insACTCACTCAC
ENST00000672923.2:n.2052+174_2052+175insACTCACTCAC
ENST00000268124.9:c.1949+174_1949+175insACTCACTCAC	ENSP00000268124.5:n.1949+174_1949+175insACTCACTCAC
ENST00000442287.6:c.1949+174_1949+175insACTCACTCAC	ENSP00000399851.2:n.1949+174_1949+175insACTCACTCAC
ENST00000526314.2:c.331+174_331+175insACTCACTCAC
ENST00000526398.1:c.138+174_138+175insACTCACTCAC
ENST00000526573.1:n.35+174_35+175insACTCACTCAC
ENST00000532584.5:n.151+174_151+175insACTCACTCAC
ENST00000631044.2:c.*1332+174_*1332+175insACTCACTCAC	ENSP00000486730.1:n.*1332+174_*1332+175insACTCACTCAC
NM_001126131.1:c.1949+174_1949+175insACTCACTCAC	NP_001119603.1:n.1949+174_1949+175insACTCACTCAC
NM_002693.2:c.1949+174_1949+175insACTCACTCAC	NP_002684.1:n.1949+174_1949+175insACTCACTCAC
NM_001126131.2:c.1949+174_1949+175insACTCACTCAC	NP_001119603.1:n.1949+174_1949+175insACTCACTCAC
NM_002693.3:c.1949+174_1949+175insACTCACTCAC MANE Select	NP_002684.1:n.1949+174_1949+175insACTCACTCAC