Canonical Allele Identifier: CA2194573118

Gene: POLG POLGARF

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333588_89333600delinsGGCTGCTGTTGCT , CM000677.2:g.89333588_89333600delinsGGCTGCTGTTGCT	GRCh38
NC_000015.9:g.89876819_89876831delinsGGCTGCTGTTGCT , CM000677.1:g.89876819_89876831delinsGGCTGCTGTTGCT	GRCh37
NC_000015.8:g.87677823_87677835delinsGGCTGCTGTTGCT	NCBI36
NG_008218.1:g.6196_6208delinsAGCAACAGCAGCC
NG_008218.2:g.6196_6208delinsAGCAACAGCAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.155_167delinsAGCAACAGCAGCC (POLG)	ENSP00000516154.1:p.Gln52=
ENST00000706918.1:c.210_222delinsAGCAACAGCAGCC (POLGARF)	ENSP00000516626.1:p.Ala70=
ENST00000268124.11:c.155_167delinsAGCAACAGCAGCC (POLG) MANE Select	ENSP00000268124.5:p.Gln52=
ENST00000635986.2:c.155_167delinsAGCAACAGCAGCC (POLG)	ENSP00000490653.2:p.Gln52=
ENST00000636774.1:c.155_167delinsAGCAACAGCAGCC (POLG)	ENSP00000489799.1:p.Gln52=
ENST00000650303.2:c.210_222delinsAGCAACAGCAGCC (POLG)	ENSP00000497242.2:p.Ala70=
ENST00000672071.1:n.353_365delinsAGCAACAGCAGCC (POLG)
ENST00000268124.9:c.155_167delinsAGCAACAGCAGCC (POLG)	ENSP00000268124.5:p.Gln52=
ENST00000442287.6:c.155_167delinsAGCAACAGCAGCC (POLG)	ENSP00000399851.2:p.Gln52=
ENST00000631044.2:c.155_167delinsAGCAACAGCAGCC (POLG)	ENSP00000486730.1:p.Gln52=
NM_001126131.1:c.155_167delinsAGCAACAGCAGCC (POLG)	NP_001119603.1:p.Gln52=
NM_002693.2:c.155_167delinsAGCAACAGCAGCC (POLG)	NP_002684.1:p.Gln52=
NM_001126131.2:c.155_167delinsAGCAACAGCAGCC (POLG)	NP_001119603.1:p.Gln52=
NM_002693.3:c.155_167delinsAGCAACAGCAGCC (POLG) MANE Select	NP_002684.1:p.Gln52=