Canonical Allele Identifier: CA2194549633

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325402_89325403delinsAG , CM000677.2:g.89325402_89325403delinsAG	GRCh38
NC_000015.9:g.89868633_89868634delinsAG , CM000677.1:g.89868633_89868634delinsAG	GRCh37
NC_000015.8:g.87669637_87669638delinsAG	NCBI36
NG_008218.1:g.14393_14394delinsCT
NG_008218.2:g.14393_14394delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+47_1949+48delinsCT	ENSP00000516154.1:n.1949+47_1949+48delinsCT
ENST00000268124.11:c.1949+47_1949+48delinsCT MANE Select	ENSP00000268124.5:n.1949+47_1949+48delinsCT
ENST00000530292.3:c.1550+47_1550+48delinsCT	ENSP00000432885.2:n.1550+47_1550+48delinsCT
ENST00000635986.2:c.1949+47_1949+48delinsCT	ENSP00000490653.2:n.1949+47_1949+48delinsCT
ENST00000636774.1:c.*516+47_*516+48delinsCT	ENSP00000489799.1:n.*516+47_*516+48delinsCT
ENST00000637238.1:c.646+87_646+88delinsCT	ENSP00000490756.1:n.646+87_646+88delinsCT
ENST00000637264.1:c.1021+47_1021+48delinsCT
ENST00000666746.1:c.1526+47_1526+48delinsCT
ENST00000670281.1:c.269+47_269+48delinsCT	ENSP00000499709.1:n.269+47_269+48delinsCT
ENST00000672071.1:n.2147+47_2147+48delinsCT
ENST00000672923.2:n.2052+47_2052+48delinsCT
ENST00000268124.9:c.1949+47_1949+48delinsCT	ENSP00000268124.5:n.1949+47_1949+48delinsCT
ENST00000442287.6:c.1949+47_1949+48delinsCT	ENSP00000399851.2:n.1949+47_1949+48delinsCT
ENST00000526314.2:c.331+47_331+48delinsCT
ENST00000526398.1:c.138+47_138+48delinsCT
ENST00000526573.1:n.35+47_35+48delinsCT
ENST00000532584.5:n.151+47_151+48delinsCT
ENST00000631044.2:c.*1332+47_*1332+48delinsCT	ENSP00000486730.1:n.*1332+47_*1332+48delinsCT
NM_001126131.1:c.1949+47_1949+48delinsCT	NP_001119603.1:n.1949+47_1949+48delinsCT
NM_002693.2:c.1949+47_1949+48delinsCT	NP_002684.1:n.1949+47_1949+48delinsCT
NM_001126131.2:c.1949+47_1949+48delinsCT	NP_001119603.1:n.1949+47_1949+48delinsCT
NM_002693.3:c.1949+47_1949+48delinsCT MANE Select	NP_002684.1:n.1949+47_1949+48delinsCT