Canonical Allele Identifier: CA619514155

Gene: POLG

Linked Data

• dbSNP Id: rs2055496823
• gnomAD v2: 15-89868512-A-AGTGAGT
• gnomAD v3: 15-89325281-A-AGTGAGT
• gnomAD v4: 15-89325281-A-AGTGAGT
• MyVariant Identifiers: chr15:g.89868514_89868517delinsTGAGTGAAAG (hg19) ; chr15:g.89325283_89325286delinsTGAGTGAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325282_89325283insTGAGTG , CM000677.2:g.89325282_89325283insTGAGTG	GRCh38
NC_000015.9:g.89868513_89868514insTGAGTG , CM000677.1:g.89868513_89868514insTGAGTG	GRCh37
NC_000015.8:g.87669517_87669518insTGAGTG	NCBI36
NG_008218.1:g.14514_14515insACTCAC
NG_008218.2:g.14514_14515insACTCAC

Transcript Alleles

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