Canonical Allele Identifier: CA2580090178

Gene: POLG

Linked Data

• ClinVar Variation Id: 2024844
• ClinVar RCV Id: RCV002847998
• gnomAD v4: 15-89317448-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317450del , CM000677.2:g.89317450del	GRCh38
NC_000015.9:g.89860681del , CM000677.1:g.89860681del	GRCh37
NC_000015.8:g.87661685del	NCBI36
NG_008218.1:g.22347del
NG_011736.1:g.78488del , LRG_500:g.78488del
NG_008218.2:g.22347del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3570del	ENSP00000516154.1:p.Lys1191ArgfsTer3
ENST00000268124.11:c.3570del MANE Select	ENSP00000268124.5:p.Lys1191ArgfsTer3
ENST00000530292.3:c.3270del	ENSP00000432885.2:n.3270del
ENST00000635986.2:c.*640del	ENSP00000490653.2:n.*640del
ENST00000636774.1:c.*2174del	ENSP00000489799.1:n.*2174del
ENST00000637042.1:n.94del
ENST00000637238.1:c.2478del	ENSP00000490756.1:n.2478del
ENST00000637264.1:c.2582del
ENST00000666746.1:c.3147del
ENST00000672071.1:n.4772del
ENST00000672695.1:n.1349del
ENST00000672923.2:n.3570del
ENST00000268124.9:c.3570del	ENSP00000268124.5:p.Lys1191ArgfsTer3
ENST00000442287.6:c.3570del	ENSP00000399851.2:p.Lys1191ArgfsTer3
ENST00000526671.1:n.380del
ENST00000530292.2:c.753del	ENSP00000432885.1:n.753del
ENST00000631044.2:c.*2994del	ENSP00000486730.1:n.*2994del
NM_001126131.1:c.3570del	NP_001119603.1:p.Lys1191ArgfsTer3
NM_002693.2:c.3570del	NP_002684.1:p.Lys1191ArgfsTer3
NM_001126131.2:c.3570del	NP_001119603.1:p.Lys1191ArgfsTer3
NM_002693.3:c.3570del MANE Select	NP_002684.1:p.Lys1191ArgfsTer3