Canonical Allele Identifier: CA972589999

Gene: POLG

Linked Data

• dbSNP Id: rs2055497261
• gnomAD v3: 15-89325284-A-AAGAGAGAGAGAAAG
• gnomAD v4: 15-89325284-A-AAGAGAGAGAGAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325295_89325296insAAGAGAGAGAGAGA , CM000677.2:g.89325295_89325296insAAGAGAGAGAGAGA	GRCh38
NC_000015.9:g.89868526_89868527insAAGAGAGAGAGAGA , CM000677.1:g.89868526_89868527insAAGAGAGAGAGAGA	GRCh37
NC_000015.8:g.87669530_87669531insAAGAGAGAGAGAGA	NCBI36
NG_008218.1:g.14511_14512insCTTTCTCTCTCTCT
NG_008218.2:g.14511_14512insCTTTCTCTCTCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+165_1949+166insCTTTCTCTCTCTCT	ENSP00000516154.1:n.1949+165_1949+166insCTTTCTCTCTCTCT
ENST00000268124.11:c.1949+165_1949+166insCTTTCTCTCTCTCT MANE Select	ENSP00000268124.5:n.1949+165_1949+166insCTTTCTCTCTCTCT
ENST00000530292.3:c.1550+165_1550+166insCTTTCTCTCTCTCT	ENSP00000432885.2:n.1550+165_1550+166insCTTTCTCTCTCTCT
ENST00000635986.2:c.1949+165_1949+166insCTTTCTCTCTCTCT	ENSP00000490653.2:n.1949+165_1949+166insCTTTCTCTCTCTCT
ENST00000636774.1:c.*516+165_*516+166insCTTTCTCTCTCTCT	ENSP00000489799.1:n.*516+165_*516+166insCTTTCTCTCTCTCT
ENST00000637238.1:c.646+205_646+206insCTTTCTCTCTCTCT	ENSP00000490756.1:n.646+205_646+206insCTTTCTCTCTCTCT
ENST00000637264.1:c.1021+165_1021+166insCTTTCTCTCTCTCT
ENST00000666746.1:c.1526+165_1526+166insCTTTCTCTCTCTCT
ENST00000670281.1:c.269+165_269+166insCTTTCTCTCTCTCT	ENSP00000499709.1:n.269+165_269+166insCTTTCTCTCTCTCT
ENST00000672071.1:n.2147+165_2147+166insCTTTCTCTCTCTCT
ENST00000672923.2:n.2052+165_2052+166insCTTTCTCTCTCTCT
ENST00000268124.9:c.1949+165_1949+166insCTTTCTCTCTCTCT	ENSP00000268124.5:n.1949+165_1949+166insCTTTCTCTCTCTCT
ENST00000442287.6:c.1949+165_1949+166insCTTTCTCTCTCTCT	ENSP00000399851.2:n.1949+165_1949+166insCTTTCTCTCTCTCT
ENST00000526314.2:c.331+165_331+166insCTTTCTCTCTCTCT
ENST00000526398.1:c.138+165_138+166insCTTTCTCTCTCTCT
ENST00000526573.1:n.35+165_35+166insCTTTCTCTCTCTCT
ENST00000532584.5:n.151+165_151+166insCTTTCTCTCTCTCT
ENST00000631044.2:c.*1332+165_*1332+166insCTTTCTCTCTCTCT	ENSP00000486730.1:n.*1332+165_*1332+166insCTTTCTCTCTCTCT
NM_001126131.1:c.1949+165_1949+166insCTTTCTCTCTCTCT	NP_001119603.1:n.1949+165_1949+166insCTTTCTCTCTCTCT
NM_002693.2:c.1949+165_1949+166insCTTTCTCTCTCTCT	NP_002684.1:n.1949+165_1949+166insCTTTCTCTCTCTCT
NM_001126131.2:c.1949+165_1949+166insCTTTCTCTCTCTCT	NP_001119603.1:n.1949+165_1949+166insCTTTCTCTCTCTCT
NM_002693.3:c.1949+165_1949+166insCTTTCTCTCTCTCT MANE Select	NP_002684.1:n.1949+165_1949+166insCTTTCTCTCTCTCT