Canonical Allele Identifier: CA2194549365

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325317_89325321delinsAATTT , CM000677.2:g.89325317_89325321delinsAATTT	GRCh38
NC_000015.9:g.89868548_89868552delinsAATTT , CM000677.1:g.89868548_89868552delinsAATTT	GRCh37
NC_000015.8:g.87669552_87669556delinsAATTT	NCBI36
NG_008218.1:g.14475_14479delinsAAATT
NG_008218.2:g.14475_14479delinsAAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+129_1949+133delinsAAATT	ENSP00000516154.1:n.1949+129_1949+133delinsAAATT
ENST00000268124.11:c.1949+129_1949+133delinsAAATT MANE Select	ENSP00000268124.5:n.1949+129_1949+133delinsAAATT
ENST00000530292.3:c.1550+129_1550+133delinsAAATT	ENSP00000432885.2:n.1550+129_1550+133delinsAAATT
ENST00000635986.2:c.1949+129_1949+133delinsAAATT	ENSP00000490653.2:n.1949+129_1949+133delinsAAATT
ENST00000636774.1:c.*516+129_*516+133delinsAAATT	ENSP00000489799.1:n.*516+129_*516+133delinsAAATT
ENST00000637238.1:c.646+169_646+173delinsAAATT	ENSP00000490756.1:n.646+169_646+173delinsAAATT
ENST00000637264.1:c.1021+129_1021+133delinsAAATT
ENST00000666746.1:c.1526+129_1526+133delinsAAATT
ENST00000670281.1:c.269+129_269+133delinsAAATT	ENSP00000499709.1:n.269+129_269+133delinsAAATT
ENST00000672071.1:n.2147+129_2147+133delinsAAATT
ENST00000672923.2:n.2052+129_2052+133delinsAAATT
ENST00000268124.9:c.1949+129_1949+133delinsAAATT	ENSP00000268124.5:n.1949+129_1949+133delinsAAATT
ENST00000442287.6:c.1949+129_1949+133delinsAAATT	ENSP00000399851.2:n.1949+129_1949+133delinsAAATT
ENST00000526314.2:c.331+129_331+133delinsAAATT
ENST00000526398.1:c.138+129_138+133delinsAAATT
ENST00000526573.1:n.35+129_35+133delinsAAATT
ENST00000532584.5:n.151+129_151+133delinsAAATT
ENST00000631044.2:c.*1332+129_*1332+133delinsAAATT	ENSP00000486730.1:n.*1332+129_*1332+133delinsAAATT
NM_001126131.1:c.1949+129_1949+133delinsAAATT	NP_001119603.1:n.1949+129_1949+133delinsAAATT
NM_002693.2:c.1949+129_1949+133delinsAAATT	NP_002684.1:n.1949+129_1949+133delinsAAATT
NM_001126131.2:c.1949+129_1949+133delinsAAATT	NP_001119603.1:n.1949+129_1949+133delinsAAATT
NM_002693.3:c.1949+129_1949+133delinsAAATT MANE Select	NP_002684.1:n.1949+129_1949+133delinsAAATT