Canonical Allele Identifier: CA2697549287

Gene: POLG

Linked Data

• ClinVar Variation Id: 2758363
• ClinVar RCV Id: RCV003515188

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317528_89317529dup , CM000677.2:g.89317528_89317529dup	GRCh38
NC_000015.9:g.89860759_89860760dup , CM000677.1:g.89860759_89860760dup	GRCh37
NC_000015.8:g.87661763_87661764dup	NCBI36
NG_008218.1:g.22268_22269dup
NG_011736.1:g.78566_78567dup , LRG_500:g.78566_78567dup
NG_008218.2:g.22268_22269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3491_3492dup	ENSP00000516154.1:p.Ala1165LeufsTer7
ENST00000268124.11:c.3491_3492dup MANE Select	ENSP00000268124.5:p.Ala1165LeufsTer7
ENST00000530292.3:c.3191_3192dup	ENSP00000432885.2:n.3191_3192dup
ENST00000635986.2:c.*561_*562dup	ENSP00000490653.2:n.*561_*562dup
ENST00000636774.1:c.*2095_*2096dup	ENSP00000489799.1:n.*2095_*2096dup
ENST00000637042.1:n.72-57_72-56dup
ENST00000637238.1:c.2399_2400dup	ENSP00000490756.1:n.2399_2400dup
ENST00000637264.1:c.2555-52_2555-51dup
ENST00000666746.1:c.3068_3069dup
ENST00000672071.1:n.4693_4694dup
ENST00000672695.1:n.1270_1271dup
ENST00000672923.2:n.3491_3492dup
ENST00000268124.9:c.3491_3492dup	ENSP00000268124.5:p.Ala1165LeufsTer7
ENST00000442287.6:c.3491_3492dup	ENSP00000399851.2:p.Ala1165LeufsTer7
ENST00000526671.1:n.301_302dup
ENST00000530292.2:c.674_675dup	ENSP00000432885.1:n.674_675dup
ENST00000631044.2:c.*2915_*2916dup	ENSP00000486730.1:n.*2915_*2916dup
NM_001126131.1:c.3491_3492dup	NP_001119603.1:p.Ala1165LeufsTer7
NM_002693.2:c.3491_3492dup	NP_002684.1:p.Ala1165LeufsTer7
NM_001126131.2:c.3491_3492dup	NP_001119603.1:p.Ala1165LeufsTer7
NM_002693.3:c.3491_3492dup MANE Select	NP_002684.1:p.Ala1165LeufsTer7