Canonical Allele Identifier: CA2194548917

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325281_89325286delinsAGAAAG , CM000677.2:g.89325281_89325286delinsAGAAAG	GRCh38
NC_000015.9:g.89868512_89868517delinsAGAAAG , CM000677.1:g.89868512_89868517delinsAGAAAG	GRCh37
NC_000015.8:g.87669516_87669521delinsAGAAAG	NCBI36
NG_008218.1:g.14510_14515delinsCTTTCT
NG_008218.2:g.14510_14515delinsCTTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+164_1949+169delinsCTTTCT	ENSP00000516154.1:n.1949+164_1949+169delinsCTTTCT
ENST00000268124.11:c.1949+164_1949+169delinsCTTTCT MANE Select	ENSP00000268124.5:n.1949+164_1949+169delinsCTTTCT
ENST00000530292.3:c.1550+164_1550+169delinsCTTTCT	ENSP00000432885.2:n.1550+164_1550+169delinsCTTTCT
ENST00000635986.2:c.1949+164_1949+169delinsCTTTCT	ENSP00000490653.2:n.1949+164_1949+169delinsCTTTCT
ENST00000636774.1:c.*516+164_*516+169delinsCTTTCT	ENSP00000489799.1:n.*516+164_*516+169delinsCTTTCT
ENST00000637238.1:c.646+204_646+209delinsCTTTCT	ENSP00000490756.1:n.646+204_646+209delinsCTTTCT
ENST00000637264.1:c.1021+164_1021+169delinsCTTTCT
ENST00000666746.1:c.1526+164_1526+169delinsCTTTCT
ENST00000670281.1:c.269+164_269+169delinsCTTTCT	ENSP00000499709.1:n.269+164_269+169delinsCTTTCT
ENST00000672071.1:n.2147+164_2147+169delinsCTTTCT
ENST00000672923.2:n.2052+164_2052+169delinsCTTTCT
ENST00000268124.9:c.1949+164_1949+169delinsCTTTCT	ENSP00000268124.5:n.1949+164_1949+169delinsCTTTCT
ENST00000442287.6:c.1949+164_1949+169delinsCTTTCT	ENSP00000399851.2:n.1949+164_1949+169delinsCTTTCT
ENST00000526314.2:c.331+164_331+169delinsCTTTCT
ENST00000526398.1:c.138+164_138+169delinsCTTTCT
ENST00000526573.1:n.35+164_35+169delinsCTTTCT
ENST00000532584.5:n.151+164_151+169delinsCTTTCT
ENST00000631044.2:c.*1332+164_*1332+169delinsCTTTCT	ENSP00000486730.1:n.*1332+164_*1332+169delinsCTTTCT
NM_001126131.1:c.1949+164_1949+169delinsCTTTCT	NP_001119603.1:n.1949+164_1949+169delinsCTTTCT
NM_002693.2:c.1949+164_1949+169delinsCTTTCT	NP_002684.1:n.1949+164_1949+169delinsCTTTCT
NM_001126131.2:c.1949+164_1949+169delinsCTTTCT	NP_001119603.1:n.1949+164_1949+169delinsCTTTCT
NM_002693.3:c.1949+164_1949+169delinsCTTTCT MANE Select	NP_002684.1:n.1949+164_1949+169delinsCTTTCT