Canonical Allele Identifier: CA2194541207

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318404_89318408delinsGAAAT , CM000677.2:g.89318404_89318408delinsGAAAT	GRCh38
NC_000015.9:g.89861635_89861639delinsGAAAT , CM000677.1:g.89861635_89861639delinsGAAAT	GRCh37
NC_000015.8:g.87662639_87662643delinsGAAAT	NCBI36
NG_008218.1:g.21388_21392delinsATTTC
NG_011736.1:g.79442_79446delinsGAAAT , LRG_500:g.79442_79446delinsGAAAT
NG_008218.2:g.21388_21392delinsATTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+133_3482+137delinsATTTC	ENSP00000516154.1:n.3482+133_3482+137delinsATTTC
ENST00000268124.11:c.3482+133_3482+137delinsATTTC MANE Select	ENSP00000268124.5:n.3482+133_3482+137delinsATTTC
ENST00000530292.3:c.3083+133_3083+137delinsATTTC	ENSP00000432885.2:n.3083+133_3083+137delinsATTTC
ENST00000635986.2:c.*552+133_*552+137delinsATTTC	ENSP00000490653.2:n.*552+133_*552+137delinsATTTC
ENST00000636774.1:c.*2049+133_*2049+137delinsATTTC	ENSP00000489799.1:n.*2049+133_*2049+137delinsATTTC
ENST00000637238.1:c.2291+133_2291+137delinsATTTC	ENSP00000490756.1:n.2291+133_2291+137delinsATTTC
ENST00000637264.1:c.2554+133_2554+137delinsATTTC
ENST00000666746.1:c.3059+133_3059+137delinsATTTC
ENST00000672071.1:n.3813_3817delinsATTTC
ENST00000672695.1:n.792_796delinsATTTC
ENST00000672923.2:n.3482+133_3482+137delinsATTTC
ENST00000268124.9:c.3482+133_3482+137delinsATTTC	ENSP00000268124.5:n.3482+133_3482+137delinsATTTC
ENST00000442287.6:c.3482+133_3482+137delinsATTTC	ENSP00000399851.2:n.3482+133_3482+137delinsATTTC
ENST00000530292.2:c.566+133_566+137delinsATTTC	ENSP00000432885.1:n.566+133_566+137delinsATTTC
ENST00000631044.2:c.*2906+133_*2906+137delinsATTTC	ENSP00000486730.1:n.*2906+133_*2906+137delinsATTTC
NM_001126131.1:c.3482+133_3482+137delinsATTTC	NP_001119603.1:n.3482+133_3482+137delinsATTTC
NM_002693.2:c.3482+133_3482+137delinsATTTC	NP_002684.1:n.3482+133_3482+137delinsATTTC
NM_001126131.2:c.3482+133_3482+137delinsATTTC	NP_001119603.1:n.3482+133_3482+137delinsATTTC
NM_002693.3:c.3482+133_3482+137delinsATTTC MANE Select	NP_002684.1:n.3482+133_3482+137delinsATTTC