Canonical Allele Identifier: CA619514126

Gene: POLG

Linked Data

• dbSNP Id: rs1567190057
• gnomAD v2: 15-89868506-A-AGTGAGTGAGTGAGT
• gnomAD v3: 15-89325275-A-AGTGAGTGAGTGAGT
• gnomAD v4: 15-89325275-A-AGTGAGTGAGTGAGT
• MyVariant Identifiers: chr15:g.89868506_89868507insGTGAGTGAGTGAGT (hg19) ; chr15:g.89325275_89325276insGTGAGTGAGTGAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325276_89325277insTGAGTGAGTGAGTG , CM000677.2:g.89325276_89325277insTGAGTGAGTGAGTG	GRCh38
NC_000015.9:g.89868507_89868508insTGAGTGAGTGAGTG , CM000677.1:g.89868507_89868508insTGAGTGAGTGAGTG	GRCh37
NC_000015.8:g.87669511_87669512insTGAGTGAGTGAGTG	NCBI36
NG_008218.1:g.14520_14521insACTCACTCACTCAC
NG_008218.2:g.14520_14521insACTCACTCACTCAC

Transcript Alleles

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