Canonical Allele Identifier: CA2805168216

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330207_89330208insGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTC , CM000677.2:g.89330207_89330208insGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTC	GRCh38
NC_000015.9:g.89873438_89873439insGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTC , CM000677.1:g.89873438_89873439insGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTC	GRCh37
NC_000015.8:g.87674442_87674443insGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTC	NCBI36
NG_008218.1:g.9588_9589insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC
NG_008218.2:g.9588_9589insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.728_729insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC	ENSP00000516154.1:p.Asp243GlufsTer3
ENST00000268124.11:c.728_729insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC MANE Select	ENSP00000268124.5:p.Asp243GlufsTer3
ENST00000530292.3:c.329_330insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC	ENSP00000432885.2:p.Asp110GlufsTer3
ENST00000635986.2:c.728_729insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC	ENSP00000490653.2:p.Asp243GlufsTer3
ENST00000636774.1:c.728_729insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC	ENSP00000489799.1:p.Asp243GlufsTer3
ENST00000666746.1:c.385_386insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC
ENST00000672071.1:n.926_927insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC
ENST00000268124.9:c.728_729insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC	ENSP00000268124.5:p.Asp243GlufsTer3
ENST00000442287.6:c.728_729insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC	ENSP00000399851.2:p.Asp243GlufsTer3
ENST00000631044.2:c.*111_*112insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC	ENSP00000486730.1:n.*111_*112insGACATAACAGAAATCTCATAGGATTAATA...
NM_001126131.1:c.728_729insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC	NP_001119603.1:p.Asp243GlufsTer3
NM_002693.2:c.728_729insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC	NP_002684.1:p.Asp243GlufsTer3
NM_001126131.2:c.728_729insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC	NP_001119603.1:p.Asp243GlufsTer3
NM_002693.3:c.728_729insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC MANE Select	NP_002684.1:p.Asp243GlufsTer3