Canonical Allele Identifier: CA2630255293
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317645_89317665dup , CM000677.2:g.89317645_89317665dup GRCh38
NC_000015.9:g.89860876_89860896dup , CM000677.1:g.89860876_89860896dup GRCh37
NC_000015.8:g.87661880_87661900dup NCBI36
NG_008218.1:g.22131_22151dup
NG_011736.1:g.78683_78703dup , LRG_500:g.78683_78703dup
NG_008218.2:g.22131_22151dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3483-129_3483-109dup ENSP00000516154.1:n.3483-129_3483-109dup
ENST00000268124.11:c.3483-129_3483-109dup MANE Select ENSP00000268124.5:n.3483-129_3483-109dup
ENST00000530292.3:c.3183-129_3183-109dup ENSP00000432885.2:n.3183-129_3183-109dup
ENST00000635986.2:c.*553-129_*553-109dup ENSP00000490653.2:n.*553-129_*553-109dup
ENST00000636774.1:c.*2087-129_*2087-109dup ENSP00000489799.1:n.*2087-129_*2087-109dup
ENST00000637042.1:n.72-194_72-174dup
ENST00000637238.1:c.2391-129_2391-109dup ENSP00000490756.1:n.2391-129_2391-109dup
ENST00000637264.1:c.2555-189_2555-169dup
ENST00000666746.1:c.3060-129_3060-109dup
ENST00000672071.1:n.4556_4576dup
ENST00000672695.1:n.1262-129_1262-109dup
ENST00000672923.2:n.3483-129_3483-109dup
ENST00000268124.9:c.3483-129_3483-109dup ENSP00000268124.5:n.3483-129_3483-109dup
ENST00000442287.6:c.3483-129_3483-109dup ENSP00000399851.2:n.3483-129_3483-109dup
ENST00000526671.1:n.164_184dup
ENST00000530292.2:c.666-129_666-109dup ENSP00000432885.1:n.666-129_666-109dup
ENST00000631044.2:c.*2907-129_*2907-109dup ENSP00000486730.1:n.*2907-129_*2907-109dup
NM_001126131.1:c.3483-129_3483-109dup NP_001119603.1:n.3483-129_3483-109dup
NM_002693.2:c.3483-129_3483-109dup NP_002684.1:n.3483-129_3483-109dup
NM_001126131.2:c.3483-129_3483-109dup NP_001119603.1:n.3483-129_3483-109dup
NM_002693.3:c.3483-129_3483-109dup MANE Select NP_002684.1:n.3483-129_3483-109dup