Canonical Allele Identifier: CA2194548956

Gene: POLG

Linked Data

• dbSNP Id: rs1163149089

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325283_89325284insGAGAGAGAAA , CM000677.2:g.89325283_89325284insGAGAGAGAAA	GRCh38
NC_000015.9:g.89868514_89868515insGAGAGAGAAA , CM000677.1:g.89868514_89868515insGAGAGAGAAA	GRCh37
NC_000015.8:g.87669518_87669519insGAGAGAGAAA	NCBI36
NG_008218.1:g.14513_14514insTTCTCTCTCT
NG_008218.2:g.14513_14514insTTCTCTCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+167_1949+168insTTCTCTCTCT	ENSP00000516154.1:n.1949+167_1949+168insTTCTCTCTCT
ENST00000268124.11:c.1949+167_1949+168insTTCTCTCTCT MANE Select	ENSP00000268124.5:n.1949+167_1949+168insTTCTCTCTCT
ENST00000530292.3:c.1550+167_1550+168insTTCTCTCTCT	ENSP00000432885.2:n.1550+167_1550+168insTTCTCTCTCT
ENST00000635986.2:c.1949+167_1949+168insTTCTCTCTCT	ENSP00000490653.2:n.1949+167_1949+168insTTCTCTCTCT
ENST00000636774.1:c.*516+167_*516+168insTTCTCTCTCT	ENSP00000489799.1:n.*516+167_*516+168insTTCTCTCTCT
ENST00000637238.1:c.646+207_646+208insTTCTCTCTCT	ENSP00000490756.1:n.646+207_646+208insTTCTCTCTCT
ENST00000637264.1:c.1021+167_1021+168insTTCTCTCTCT
ENST00000666746.1:c.1526+167_1526+168insTTCTCTCTCT
ENST00000670281.1:c.269+167_269+168insTTCTCTCTCT	ENSP00000499709.1:n.269+167_269+168insTTCTCTCTCT
ENST00000672071.1:n.2147+167_2147+168insTTCTCTCTCT
ENST00000672923.2:n.2052+167_2052+168insTTCTCTCTCT
ENST00000268124.9:c.1949+167_1949+168insTTCTCTCTCT	ENSP00000268124.5:n.1949+167_1949+168insTTCTCTCTCT
ENST00000442287.6:c.1949+167_1949+168insTTCTCTCTCT	ENSP00000399851.2:n.1949+167_1949+168insTTCTCTCTCT
ENST00000526314.2:c.331+167_331+168insTTCTCTCTCT
ENST00000526398.1:c.138+167_138+168insTTCTCTCTCT
ENST00000526573.1:n.35+167_35+168insTTCTCTCTCT
ENST00000532584.5:n.151+167_151+168insTTCTCTCTCT
ENST00000631044.2:c.*1332+167_*1332+168insTTCTCTCTCT	ENSP00000486730.1:n.*1332+167_*1332+168insTTCTCTCTCT
NM_001126131.1:c.1949+167_1949+168insTTCTCTCTCT	NP_001119603.1:n.1949+167_1949+168insTTCTCTCTCT
NM_002693.2:c.1949+167_1949+168insTTCTCTCTCT	NP_002684.1:n.1949+167_1949+168insTTCTCTCTCT
NM_001126131.2:c.1949+167_1949+168insTTCTCTCTCT	NP_001119603.1:n.1949+167_1949+168insTTCTCTCTCT
NM_002693.3:c.1949+167_1949+168insTTCTCTCTCT MANE Select	NP_002684.1:n.1949+167_1949+168insTTCTCTCTCT