Canonical Allele Identifier: CA2194539323
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317487_89317491delinsCGACT , CM000677.2:g.89317487_89317491delinsCGACT GRCh38
NC_000015.9:g.89860718_89860722delinsCGACT , CM000677.1:g.89860718_89860722delinsCGACT GRCh37
NC_000015.8:g.87661722_87661726delinsCGACT NCBI36
NG_008218.1:g.22305_22309delinsAGTCG
NG_011736.1:g.78525_78529delinsCGACT , LRG_500:g.78525_78529delinsCGACT
NG_008218.2:g.22305_22309delinsAGTCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3528_3532delinsAGTCG ENSP00000516154.1:p.Ser1176=
ENST00000268124.11:c.3528_3532delinsAGTCG MANE Select ENSP00000268124.5:p.Ser1176=
ENST00000530292.3:c.3228_3232delinsAGTCG ENSP00000432885.2:n.3228_3232delinsAGTCG
ENST00000635986.2:c.*598_*602delinsAGTCG ENSP00000490653.2:n.*598_*602delinsAGTCG
ENST00000636774.1:c.*2132_*2136delinsAGTCG ENSP00000489799.1:n.*2132_*2136delinsAGTCG
ENST00000637042.1:n.72-20_72-16delinsAGTCG
ENST00000637238.1:c.2436_2440delinsAGTCG ENSP00000490756.1:n.2436_2440delinsAGTCG
ENST00000637264.1:c.2555-15_2555-11delinsAGTCG
ENST00000666746.1:c.3105_3109delinsAGTCG
ENST00000672071.1:n.4730_4734delinsAGTCG
ENST00000672695.1:n.1307_1311delinsAGTCG
ENST00000672923.2:n.3528_3532delinsAGTCG
ENST00000268124.9:c.3528_3532delinsAGTCG ENSP00000268124.5:p.Ser1176=
ENST00000442287.6:c.3528_3532delinsAGTCG ENSP00000399851.2:p.Ser1176=
ENST00000526671.1:n.338_342delinsAGTCG
ENST00000530292.2:c.711_715delinsAGTCG ENSP00000432885.1:n.711_715delinsAGTCG
ENST00000631044.2:c.*2952_*2956delinsAGTCG ENSP00000486730.1:n.*2952_*2956delinsAGTCG
NM_001126131.1:c.3528_3532delinsAGTCG NP_001119603.1:p.Ser1176=
NM_002693.2:c.3528_3532delinsAGTCG NP_002684.1:p.Ser1176=
NM_001126131.2:c.3528_3532delinsAGTCG NP_001119603.1:p.Ser1176=
NM_002693.3:c.3528_3532delinsAGTCG MANE Select NP_002684.1:p.Ser1176=