Canonical Allele Identifier: CA2194541082

Gene: POLG

Linked Data

• dbSNP Id: rs2055336554

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318347_89318349del , CM000677.2:g.89318347_89318349del	GRCh38
NC_000015.9:g.89861578_89861580del , CM000677.1:g.89861578_89861580del	GRCh37
NC_000015.8:g.87662582_87662584del	NCBI36
NG_008218.1:g.21448_21450del
NG_011736.1:g.79385_79387del , LRG_500:g.79385_79387del
NG_008218.2:g.21448_21450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+193_3482+195del	ENSP00000516154.1:n.3482+193_3482+195del
ENST00000268124.11:c.3482+193_3482+195del MANE Select	ENSP00000268124.5:n.3482+193_3482+195del
ENST00000530292.3:c.3083+193_3083+195del	ENSP00000432885.2:n.3083+193_3083+195del
ENST00000635986.2:c.*552+193_*552+195del	ENSP00000490653.2:n.*552+193_*552+195del
ENST00000636774.1:c.*2049+193_*2049+195del	ENSP00000489799.1:n.*2049+193_*2049+195del
ENST00000637238.1:c.2291+193_2291+195del	ENSP00000490756.1:n.2291+193_2291+195del
ENST00000637264.1:c.2554+193_2554+195del
ENST00000666746.1:c.3059+193_3059+195del
ENST00000672071.1:n.3873_3875del
ENST00000672695.1:n.852_854del
ENST00000672923.2:n.3482+193_3482+195del
ENST00000268124.9:c.3482+193_3482+195del	ENSP00000268124.5:n.3482+193_3482+195del
ENST00000442287.6:c.3482+193_3482+195del	ENSP00000399851.2:n.3482+193_3482+195del
ENST00000530292.2:c.566+193_566+195del	ENSP00000432885.1:n.566+193_566+195del
ENST00000631044.2:c.*2906+193_*2906+195del	ENSP00000486730.1:n.*2906+193_*2906+195del
NM_001126131.1:c.3482+193_3482+195del	NP_001119603.1:n.3482+193_3482+195del
NM_002693.2:c.3482+193_3482+195del	NP_002684.1:n.3482+193_3482+195del
NM_001126131.2:c.3482+193_3482+195del	NP_001119603.1:n.3482+193_3482+195del
NM_002693.3:c.3482+193_3482+195del MANE Select	NP_002684.1:n.3482+193_3482+195del