Canonical Allele Identifier: CA972589961

Gene: POLG

Linked Data

• dbSNP Id: rs2055496823
• gnomAD v3: 15-89325281-A-AGTGAGTGAGT
• gnomAD v4: 15-89325281-A-AGTGAGTGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325282_89325283insTGAGTGAGTG , CM000677.2:g.89325282_89325283insTGAGTGAGTG	GRCh38
NC_000015.9:g.89868513_89868514insTGAGTGAGTG , CM000677.1:g.89868513_89868514insTGAGTGAGTG	GRCh37
NC_000015.8:g.87669517_87669518insTGAGTGAGTG	NCBI36
NG_008218.1:g.14514_14515insACTCACTCAC
NG_008218.2:g.14514_14515insACTCACTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+168_1949+169insACTCACTCAC	ENSP00000516154.1:n.1949+168_1949+169insACTCACTCAC
ENST00000268124.11:c.1949+168_1949+169insACTCACTCAC MANE Select	ENSP00000268124.5:n.1949+168_1949+169insACTCACTCAC
ENST00000530292.3:c.1550+168_1550+169insACTCACTCAC	ENSP00000432885.2:n.1550+168_1550+169insACTCACTCAC
ENST00000635986.2:c.1949+168_1949+169insACTCACTCAC	ENSP00000490653.2:n.1949+168_1949+169insACTCACTCAC
ENST00000636774.1:c.*516+168_*516+169insACTCACTCAC	ENSP00000489799.1:n.*516+168_*516+169insACTCACTCAC
ENST00000637238.1:c.646+208_646+209insACTCACTCAC	ENSP00000490756.1:n.646+208_646+209insACTCACTCAC
ENST00000637264.1:c.1021+168_1021+169insACTCACTCAC
ENST00000666746.1:c.1526+168_1526+169insACTCACTCAC
ENST00000670281.1:c.269+168_269+169insACTCACTCAC	ENSP00000499709.1:n.269+168_269+169insACTCACTCAC
ENST00000672071.1:n.2147+168_2147+169insACTCACTCAC
ENST00000672923.2:n.2052+168_2052+169insACTCACTCAC
ENST00000268124.9:c.1949+168_1949+169insACTCACTCAC	ENSP00000268124.5:n.1949+168_1949+169insACTCACTCAC
ENST00000442287.6:c.1949+168_1949+169insACTCACTCAC	ENSP00000399851.2:n.1949+168_1949+169insACTCACTCAC
ENST00000526314.2:c.331+168_331+169insACTCACTCAC
ENST00000526398.1:c.138+168_138+169insACTCACTCAC
ENST00000526573.1:n.35+168_35+169insACTCACTCAC
ENST00000532584.5:n.151+168_151+169insACTCACTCAC
ENST00000631044.2:c.*1332+168_*1332+169insACTCACTCAC	ENSP00000486730.1:n.*1332+168_*1332+169insACTCACTCAC
NM_001126131.1:c.1949+168_1949+169insACTCACTCAC	NP_001119603.1:n.1949+168_1949+169insACTCACTCAC
NM_002693.2:c.1949+168_1949+169insACTCACTCAC	NP_002684.1:n.1949+168_1949+169insACTCACTCAC
NM_001126131.2:c.1949+168_1949+169insACTCACTCAC	NP_001119603.1:n.1949+168_1949+169insACTCACTCAC
NM_002693.3:c.1949+168_1949+169insACTCACTCAC MANE Select	NP_002684.1:n.1949+168_1949+169insACTCACTCAC