Canonical Allele Identifier: CA2194548876

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325277_89325278delinsAG , CM000677.2:g.89325277_89325278delinsAG	GRCh38
NC_000015.9:g.89868508_89868509delinsAG , CM000677.1:g.89868508_89868509delinsAG	GRCh37
NC_000015.8:g.87669512_87669513delinsAG	NCBI36
NG_008218.1:g.14518_14519delinsCT
NG_008218.2:g.14518_14519delinsCT

Transcript Alleles

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