Canonical Allele Identifier: CA2194548901

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325279_89325286delinsAGAGAAAG , CM000677.2:g.89325279_89325286delinsAGAGAAAG	GRCh38
NC_000015.9:g.89868510_89868517delinsAGAGAAAG , CM000677.1:g.89868510_89868517delinsAGAGAAAG	GRCh37
NC_000015.8:g.87669514_87669521delinsAGAGAAAG	NCBI36
NG_008218.1:g.14510_14517delinsCTTTCTCT
NG_008218.2:g.14510_14517delinsCTTTCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+164_1949+171delinsCTTTCTCT	ENSP00000516154.1:n.1949+164_1949+171delinsCTTTCTCT
ENST00000268124.11:c.1949+164_1949+171delinsCTTTCTCT MANE Select	ENSP00000268124.5:n.1949+164_1949+171delinsCTTTCTCT
ENST00000530292.3:c.1550+164_1550+171delinsCTTTCTCT	ENSP00000432885.2:n.1550+164_1550+171delinsCTTTCTCT
ENST00000635986.2:c.1949+164_1949+171delinsCTTTCTCT	ENSP00000490653.2:n.1949+164_1949+171delinsCTTTCTCT
ENST00000636774.1:c.*516+164_*516+171delinsCTTTCTCT	ENSP00000489799.1:n.*516+164_*516+171delinsCTTTCTCT
ENST00000637238.1:c.646+204_646+211delinsCTTTCTCT	ENSP00000490756.1:n.646+204_646+211delinsCTTTCTCT
ENST00000637264.1:c.1021+164_1021+171delinsCTTTCTCT
ENST00000666746.1:c.1526+164_1526+171delinsCTTTCTCT
ENST00000670281.1:c.269+164_269+171delinsCTTTCTCT	ENSP00000499709.1:n.269+164_269+171delinsCTTTCTCT
ENST00000672071.1:n.2147+164_2147+171delinsCTTTCTCT
ENST00000672923.2:n.2052+164_2052+171delinsCTTTCTCT
ENST00000268124.9:c.1949+164_1949+171delinsCTTTCTCT	ENSP00000268124.5:n.1949+164_1949+171delinsCTTTCTCT
ENST00000442287.6:c.1949+164_1949+171delinsCTTTCTCT	ENSP00000399851.2:n.1949+164_1949+171delinsCTTTCTCT
ENST00000526314.2:c.331+164_331+171delinsCTTTCTCT
ENST00000526398.1:c.138+164_138+171delinsCTTTCTCT
ENST00000526573.1:n.35+164_35+171delinsCTTTCTCT
ENST00000532584.5:n.151+164_151+171delinsCTTTCTCT
ENST00000631044.2:c.*1332+164_*1332+171delinsCTTTCTCT	ENSP00000486730.1:n.*1332+164_*1332+171delinsCTTTCTCT
NM_001126131.1:c.1949+164_1949+171delinsCTTTCTCT	NP_001119603.1:n.1949+164_1949+171delinsCTTTCTCT
NM_002693.2:c.1949+164_1949+171delinsCTTTCTCT	NP_002684.1:n.1949+164_1949+171delinsCTTTCTCT
NM_001126131.2:c.1949+164_1949+171delinsCTTTCTCT	NP_001119603.1:n.1949+164_1949+171delinsCTTTCTCT
NM_002693.3:c.1949+164_1949+171delinsCTTTCTCT MANE Select	NP_002684.1:n.1949+164_1949+171delinsCTTTCTCT