Canonical Allele Identifier: CA2194541164

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318383_89318400delinsTCTACAACTTTTTAAAAA , CM000677.2:g.89318383_89318400delinsTCTACAACTTTTTAAAAA	GRCh38
NC_000015.9:g.89861614_89861631delinsTCTACAACTTTTTAAAAA , CM000677.1:g.89861614_89861631delinsTCTACAACTTTTTAAAAA	GRCh37
NC_000015.8:g.87662618_87662635delinsTCTACAACTTTTTAAAAA	NCBI36
NG_008218.1:g.21396_21413delinsTTTTTAAAAAGTTGTAGA
NG_011736.1:g.79421_79438delinsTCTACAACTTTTTAAAAA , LRG_500:g.79421_79438delinsTCTACAACTTTTTAAAAA
NG_008218.2:g.21396_21413delinsTTTTTAAAAAGTTGTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA	ENSP00000516154.1:n.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA...
ENST00000268124.11:c.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA MANE Select	ENSP00000268124.5:n.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA...
ENST00000530292.3:c.3083+141_3083+158delinsTTTTTAAAAAGTTGTAGA	ENSP00000432885.2:n.3083+141_3083+158delinsTTTTTAAAAAGTTGTAGA...
ENST00000635986.2:c.*552+141_*552+158delinsTTTTTAAAAAGTTGTAGA	ENSP00000490653.2:n.*552+141_*552+158delinsTTTTTAAAAAGTTGTAGA...
ENST00000636774.1:c.*2049+141_*2049+158delinsTTTTTAAAAAGTTGTAGA	ENSP00000489799.1:n.*2049+141_*2049+158delinsTTTTTAAAAAGTTGTA...
ENST00000637238.1:c.2291+141_2291+158delinsTTTTTAAAAAGTTGTAGA	ENSP00000490756.1:n.2291+141_2291+158delinsTTTTTAAAAAGTTGTAGA...
ENST00000637264.1:c.2554+141_2554+158delinsTTTTTAAAAAGTTGTAGA
ENST00000666746.1:c.3059+141_3059+158delinsTTTTTAAAAAGTTGTAGA
ENST00000672071.1:n.3821_3838delinsTTTTTAAAAAGTTGTAGA
ENST00000672695.1:n.800_817delinsTTTTTAAAAAGTTGTAGA
ENST00000672923.2:n.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA
ENST00000268124.9:c.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA	ENSP00000268124.5:n.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA...
ENST00000442287.6:c.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA	ENSP00000399851.2:n.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA...
ENST00000530292.2:c.566+141_566+158delinsTTTTTAAAAAGTTGTAGA	ENSP00000432885.1:n.566+141_566+158delinsTTTTTAAAAAGTTGTAGA
ENST00000631044.2:c.*2906+141_*2906+158delinsTTTTTAAAAAGTTGTAGA	ENSP00000486730.1:n.*2906+141_*2906+158delinsTTTTTAAAAAGTTGTA...
NM_001126131.1:c.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA	NP_001119603.1:n.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA
NM_002693.2:c.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA	NP_002684.1:n.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA
NM_001126131.2:c.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA	NP_001119603.1:n.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA
NM_002693.3:c.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA MANE Select	NP_002684.1:n.3482+141_3482+158delinsTTTTTAAAAAGTTGTAGA