Canonical Allele Identifier: CA2194561721

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328744_89328761delinsTCTCTAAGGGAGGCCCCC , CM000677.2:g.89328744_89328761delinsTCTCTAAGGGAGGCCCCC	GRCh38
NC_000015.9:g.89871975_89871992delinsTCTCTAAGGGAGGCCCCC , CM000677.1:g.89871975_89871992delinsTCTCTAAGGGAGGCCCCC	GRCh37
NC_000015.8:g.87672979_87672996delinsTCTCTAAGGGAGGCCCCC	NCBI36
NG_008218.1:g.11035_11052delinsGGGGGCCTCCCTTAGAGA
NG_008218.2:g.11035_11052delinsGGGGGCCTCCCTTAGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1094_1111delinsGGGGGCCTCCCTTAGAGA	ENSP00000516154.1:p.Gly365=
ENST00000268124.11:c.1094_1111delinsGGGGGCCTCCCTTAGAGA MANE Select	ENSP00000268124.5:p.Gly365=
ENST00000530292.3:c.695_712delinsGGGGGCCTCCCTTAGAGA	ENSP00000432885.2:p.Gly232=
ENST00000635986.2:c.1094_1111delinsGGGGGCCTCCCTTAGAGA	ENSP00000490653.2:p.Gly365=
ENST00000636774.1:c.1094_1111delinsGGGGGCCTCCCTTAGAGA	ENSP00000489799.1:p.Gly365=
ENST00000637264.1:c.166_183delinsGGGGGCCTCCCTTAGAGA
ENST00000666746.1:c.751_768delinsGGGGGCCTCCCTTAGAGA
ENST00000672071.1:n.1292_1309delinsGGGGGCCTCCCTTAGAGA
ENST00000672923.2:n.91_108delinsGGGGGCCTCCCTTAGAGA
ENST00000268124.9:c.1094_1111delinsGGGGGCCTCCCTTAGAGA	ENSP00000268124.5:p.Gly365=
ENST00000442287.6:c.1094_1111delinsGGGGGCCTCCCTTAGAGA	ENSP00000399851.2:p.Gly365=
ENST00000631044.2:c.*477_*494delinsGGGGGCCTCCCTTAGAGA	ENSP00000486730.1:n.*477_*494delinsGGGGGCCTCCCTTAGAGA
NM_001126131.1:c.1094_1111delinsGGGGGCCTCCCTTAGAGA	NP_001119603.1:p.Gly365=
NM_002693.2:c.1094_1111delinsGGGGGCCTCCCTTAGAGA	NP_002684.1:p.Gly365=
NM_001126131.2:c.1094_1111delinsGGGGGCCTCCCTTAGAGA	NP_001119603.1:p.Gly365=
NM_002693.3:c.1094_1111delinsGGGGGCCTCCCTTAGAGA MANE Select	NP_002684.1:p.Gly365=