Canonical Allele Identifier: CA2194562498

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328952_89328956delinsTCTTC , CM000677.2:g.89328952_89328956delinsTCTTC	GRCh38
NC_000015.9:g.89872183_89872187delinsTCTTC , CM000677.1:g.89872183_89872187delinsTCTTC	GRCh37
NC_000015.8:g.87673187_87673191delinsTCTTC	NCBI36
NG_008218.1:g.10840_10844delinsGAAGA
NG_008218.2:g.10840_10844delinsGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1010_1014delinsGAAGA	ENSP00000516154.1:p.Arg337=
ENST00000268124.11:c.1010_1014delinsGAAGA MANE Select	ENSP00000268124.5:p.Arg337=
ENST00000530292.3:c.611_615delinsGAAGA	ENSP00000432885.2:p.Arg204=
ENST00000635986.2:c.1010_1014delinsGAAGA	ENSP00000490653.2:p.Arg337=
ENST00000636774.1:c.1010_1014delinsGAAGA	ENSP00000489799.1:p.Arg337=
ENST00000637264.1:c.82_86delinsGAAGA
ENST00000666746.1:c.667_671delinsGAAGA
ENST00000672071.1:n.1208_1212delinsGAAGA
ENST00000672923.2:n.7_11delinsGAAGA
ENST00000268124.9:c.1010_1014delinsGAAGA	ENSP00000268124.5:p.Arg337=
ENST00000442287.6:c.1010_1014delinsGAAGA	ENSP00000399851.2:p.Arg337=
ENST00000631044.2:c.*393_*397delinsGAAGA	ENSP00000486730.1:n.*393_*397delinsGAAGA
NM_001126131.1:c.1010_1014delinsGAAGA	NP_001119603.1:p.Arg337=
NM_002693.2:c.1010_1014delinsGAAGA	NP_002684.1:p.Arg337=
NM_001126131.2:c.1010_1014delinsGAAGA	NP_001119603.1:p.Arg337=
NM_002693.3:c.1010_1014delinsGAAGA MANE Select	NP_002684.1:p.Arg337=