Canonical Allele Identifier: CA2194541630

Gene: POLG

Linked Data

• ClinVar Variation Id: 1372754
• ClinVar RCV Id: RCV001874804
• dbSNP Id: rs2055342092
• gnomAD v4: 15-89318580-C-CGGTAGCGGTCCTCCTCCCGCACCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318588_89318611dup , CM000677.2:g.89318588_89318611dup	GRCh38
NC_000015.9:g.89861819_89861842dup , CM000677.1:g.89861819_89861842dup	GRCh37
NC_000015.8:g.87662823_87662846dup	NCBI36
NG_008218.1:g.21192_21215dup
NG_011736.1:g.79626_79649dup , LRG_500:g.79626_79649dup
NG_008218.2:g.21192_21215dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3419_3442dup	ENSP00000516154.1:p.Tyr1147_Arg1148insLeuValArgGluGluAspArgTy...
ENST00000268124.11:c.3419_3442dup MANE Select	ENSP00000268124.5:p.Tyr1147_Arg1148insLeuValArgGluGluAspArgTy...
ENST00000530292.3:c.3020_3043dup	ENSP00000432885.2:p.Tyr1014_Arg1015insLeuValArgGluGluAspArgTy...
ENST00000635986.2:c.*489_*512dup	ENSP00000490653.2:n.*489_*512dup
ENST00000636774.1:c.*1986_*2009dup	ENSP00000489799.1:n.*1986_*2009dup
ENST00000637238.1:c.2228_2251dup	ENSP00000490756.1:n.2228_2251dup
ENST00000637264.1:c.2491_2514dup
ENST00000666746.1:c.2996_3019dup
ENST00000672071.1:n.3617_3640dup
ENST00000672695.1:n.596_619dup
ENST00000672923.2:n.3419_3442dup
ENST00000268124.9:c.3419_3442dup	ENSP00000268124.5:p.Tyr1147_Arg1148insLeuValArgGluGluAspArgTy...
ENST00000442287.6:c.3419_3442dup	ENSP00000399851.2:p.Tyr1147_Arg1148insLeuValArgGluGluAspArgTy...
ENST00000530292.2:c.503_526dup	ENSP00000432885.1:p.Tyr175_Arg176insLeuValArgGluGluAspArgTyr
ENST00000631044.2:c.*2843_*2866dup	ENSP00000486730.1:n.*2843_*2866dup
NM_001126131.1:c.3419_3442dup	NP_001119603.1:p.Tyr1147_Arg1148insLeuValArgGluGluAspArgTyr
NM_002693.2:c.3419_3442dup	NP_002684.1:p.Tyr1147_Arg1148insLeuValArgGluGluAspArgTyr
NM_001126131.2:c.3419_3442dup	NP_001119603.1:p.Tyr1147_Arg1148insLeuValArgGluGluAspArgTyr
NM_002693.3:c.3419_3442dup MANE Select	NP_002684.1:p.Tyr1147_Arg1148insLeuValArgGluGluAspArgTyr