Canonical Allele Identifier: CA972589899

Gene: POLG

Linked Data

• dbSNP Id: rs2055496473
• gnomAD v3: 15-89325277-A-AGAGTGAGTGAGTGAGT
• gnomAD v4: 15-89325277-A-AGAGTGAGTGAGTGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325280_89325281insTGAGTGAGTGAGTGAG , CM000677.2:g.89325280_89325281insTGAGTGAGTGAGTGAG	GRCh38
NC_000015.9:g.89868511_89868512insTGAGTGAGTGAGTGAG , CM000677.1:g.89868511_89868512insTGAGTGAGTGAGTGAG	GRCh37
NC_000015.8:g.87669515_87669516insTGAGTGAGTGAGTGAG	NCBI36
NG_008218.1:g.14518_14519insACTCACTCACTCACTC
NG_008218.2:g.14518_14519insACTCACTCACTCACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+172_1949+173insACTCACTCACTCACTC	ENSP00000516154.1:n.1949+172_1949+173insACTCACTCACTCACTC
ENST00000268124.11:c.1949+172_1949+173insACTCACTCACTCACTC MANE Select	ENSP00000268124.5:n.1949+172_1949+173insACTCACTCACTCACTC
ENST00000530292.3:c.1550+172_1550+173insACTCACTCACTCACTC	ENSP00000432885.2:n.1550+172_1550+173insACTCACTCACTCACTC
ENST00000635986.2:c.1949+172_1949+173insACTCACTCACTCACTC	ENSP00000490653.2:n.1949+172_1949+173insACTCACTCACTCACTC
ENST00000636774.1:c.*516+172_*516+173insACTCACTCACTCACTC	ENSP00000489799.1:n.*516+172_*516+173insACTCACTCACTCACTC
ENST00000637238.1:c.646+212_646+213insACTCACTCACTCACTC	ENSP00000490756.1:n.646+212_646+213insACTCACTCACTCACTC
ENST00000637264.1:c.1021+172_1021+173insACTCACTCACTCACTC
ENST00000666746.1:c.1526+172_1526+173insACTCACTCACTCACTC
ENST00000670281.1:c.269+172_269+173insACTCACTCACTCACTC	ENSP00000499709.1:n.269+172_269+173insACTCACTCACTCACTC
ENST00000672071.1:n.2147+172_2147+173insACTCACTCACTCACTC
ENST00000672923.2:n.2052+172_2052+173insACTCACTCACTCACTC
ENST00000268124.9:c.1949+172_1949+173insACTCACTCACTCACTC	ENSP00000268124.5:n.1949+172_1949+173insACTCACTCACTCACTC
ENST00000442287.6:c.1949+172_1949+173insACTCACTCACTCACTC	ENSP00000399851.2:n.1949+172_1949+173insACTCACTCACTCACTC
ENST00000526314.2:c.331+172_331+173insACTCACTCACTCACTC
ENST00000526398.1:c.138+172_138+173insACTCACTCACTCACTC
ENST00000526573.1:n.35+172_35+173insACTCACTCACTCACTC
ENST00000532584.5:n.151+172_151+173insACTCACTCACTCACTC
ENST00000631044.2:c.*1332+172_*1332+173insACTCACTCACTCACTC	ENSP00000486730.1:n.*1332+172_*1332+173insACTCACTCACTCACTC
NM_001126131.1:c.1949+172_1949+173insACTCACTCACTCACTC	NP_001119603.1:n.1949+172_1949+173insACTCACTCACTCACTC
NM_002693.2:c.1949+172_1949+173insACTCACTCACTCACTC	NP_002684.1:n.1949+172_1949+173insACTCACTCACTCACTC
NM_001126131.2:c.1949+172_1949+173insACTCACTCACTCACTC	NP_001119603.1:n.1949+172_1949+173insACTCACTCACTCACTC
NM_002693.3:c.1949+172_1949+173insACTCACTCACTCACTC MANE Select	NP_002684.1:n.1949+172_1949+173insACTCACTCACTCACTC