Canonical Allele Identifier: CA2194549024

Gene: POLG

Linked Data

• dbSNP Id: rs2055497674

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325290_89325291insGG , CM000677.2:g.89325290_89325291insGG	GRCh38
NC_000015.9:g.89868521_89868522insGG , CM000677.1:g.89868521_89868522insGG	GRCh37
NC_000015.8:g.87669525_87669526insGG	NCBI36
NG_008218.1:g.14506_14507insCC
NG_008218.2:g.14506_14507insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+160_1949+161insCC	ENSP00000516154.1:n.1949+160_1949+161insCC
ENST00000268124.11:c.1949+160_1949+161insCC MANE Select	ENSP00000268124.5:n.1949+160_1949+161insCC
ENST00000530292.3:c.1550+160_1550+161insCC	ENSP00000432885.2:n.1550+160_1550+161insCC
ENST00000635986.2:c.1949+160_1949+161insCC	ENSP00000490653.2:n.1949+160_1949+161insCC
ENST00000636774.1:c.*516+160_*516+161insCC	ENSP00000489799.1:n.*516+160_*516+161insCC
ENST00000637238.1:c.646+200_646+201insCC	ENSP00000490756.1:n.646+200_646+201insCC
ENST00000637264.1:c.1021+160_1021+161insCC
ENST00000666746.1:c.1526+160_1526+161insCC
ENST00000670281.1:c.269+160_269+161insCC	ENSP00000499709.1:n.269+160_269+161insCC
ENST00000672071.1:n.2147+160_2147+161insCC
ENST00000672923.2:n.2052+160_2052+161insCC
ENST00000268124.9:c.1949+160_1949+161insCC	ENSP00000268124.5:n.1949+160_1949+161insCC
ENST00000442287.6:c.1949+160_1949+161insCC	ENSP00000399851.2:n.1949+160_1949+161insCC
ENST00000526314.2:c.331+160_331+161insCC
ENST00000526398.1:c.138+160_138+161insCC
ENST00000526573.1:n.35+160_35+161insCC
ENST00000532584.5:n.151+160_151+161insCC
ENST00000631044.2:c.*1332+160_*1332+161insCC	ENSP00000486730.1:n.*1332+160_*1332+161insCC
NM_001126131.1:c.1949+160_1949+161insCC	NP_001119603.1:n.1949+160_1949+161insCC
NM_002693.2:c.1949+160_1949+161insCC	NP_002684.1:n.1949+160_1949+161insCC
NM_001126131.2:c.1949+160_1949+161insCC	NP_001119603.1:n.1949+160_1949+161insCC
NM_002693.3:c.1949+160_1949+161insCC MANE Select	NP_002684.1:n.1949+160_1949+161insCC