Canonical Allele Identifier: CA915946120

Gene: POLG

Linked Data

• ClinVar Variation Id: 805230
• ClinVar RCV Id: RCV000992689 ; RCV003461299
• dbSNP Id: rs1596348547
• gnomAD v4: 15-89317487-CGACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317493_89317496del , CM000677.2:g.89317493_89317496del	GRCh38
NC_000015.9:g.89860724_89860727del , CM000677.1:g.89860724_89860727del	GRCh37
NC_000015.8:g.87661728_87661731del	NCBI36
NG_008218.1:g.22305_22308del
NG_011736.1:g.78531_78534del , LRG_500:g.78531_78534del
NG_008218.2:g.22305_22308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3528_3531del	ENSP00000516154.1:p.Val1177ProfsTer16
ENST00000268124.11:c.3528_3531del MANE Select	ENSP00000268124.5:p.Val1177ProfsTer16
ENST00000530292.3:c.3228_3231del	ENSP00000432885.2:n.3228_3231del
ENST00000635986.2:c.*598_*601del	ENSP00000490653.2:n.*598_*601del
ENST00000636774.1:c.*2132_*2135del	ENSP00000489799.1:n.*2132_*2135del
ENST00000637042.1:n.72-20_72-17del
ENST00000637238.1:c.2436_2439del	ENSP00000490756.1:n.2436_2439del
ENST00000637264.1:c.2555-15_2555-12del
ENST00000666746.1:c.3105_3108del
ENST00000672071.1:n.4730_4733del
ENST00000672695.1:n.1307_1310del
ENST00000672923.2:n.3528_3531del
ENST00000268124.9:c.3528_3531del	ENSP00000268124.5:p.Val1177ProfsTer16
ENST00000442287.6:c.3528_3531del	ENSP00000399851.2:p.Val1177ProfsTer16
ENST00000526671.1:n.338_341del
ENST00000530292.2:c.711_714del	ENSP00000432885.1:n.711_714del
ENST00000631044.2:c.*2952_*2955del	ENSP00000486730.1:n.*2952_*2955del
NM_001126131.1:c.3528_3531del	NP_001119603.1:p.Val1177ProfsTer16
NM_002693.2:c.3528_3531del	NP_002684.1:p.Val1177ProfsTer16
NM_001126131.2:c.3528_3531del	NP_001119603.1:p.Val1177ProfsTer16
NM_002693.3:c.3528_3531del MANE Select	NP_002684.1:p.Val1177ProfsTer16