Canonical Allele Identifier: CA2630253903

Gene: POLG

Linked Data

• gnomAD v4: 15-89327138-T-TAGATCCTGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327140_89327150dup , CM000677.2:g.89327140_89327150dup	GRCh38
NC_000015.9:g.89870371_89870381dup , CM000677.1:g.89870371_89870381dup	GRCh37
NC_000015.8:g.87671375_87671385dup	NCBI36
NG_008218.1:g.12647_12657dup
NG_008218.2:g.12647_12657dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1433+18_1433+28dup	ENSP00000516154.1:n.1433+18_1433+28dup
ENST00000268124.11:c.1433+18_1433+28dup MANE Select	ENSP00000268124.5:n.1433+18_1433+28dup
ENST00000530292.3:c.1034+18_1034+28dup	ENSP00000432885.2:n.1034+18_1034+28dup
ENST00000635986.2:c.1433+18_1433+28dup	ENSP00000490653.2:n.1433+18_1433+28dup
ENST00000636774.1:c.1433+18_1433+28dup	ENSP00000489799.1:n.1433+18_1433+28dup
ENST00000637238.1:c.170+18_170+28dup	ENSP00000490756.1:n.170+18_170+28dup
ENST00000637264.1:c.505+18_505+28dup
ENST00000666746.1:c.1010+18_1010+28dup
ENST00000672071.1:n.1631+18_1631+28dup
ENST00000672923.2:n.1536+18_1536+28dup
ENST00000268124.9:c.1433+18_1433+28dup	ENSP00000268124.5:n.1433+18_1433+28dup
ENST00000442287.6:c.1433+18_1433+28dup	ENSP00000399851.2:n.1433+18_1433+28dup
ENST00000532363.2:n.309_319dup
ENST00000631044.2:c.*816+18_*816+28dup	ENSP00000486730.1:n.*816+18_*816+28dup
NM_001126131.1:c.1433+18_1433+28dup	NP_001119603.1:n.1433+18_1433+28dup
NM_002693.2:c.1433+18_1433+28dup	NP_002684.1:n.1433+18_1433+28dup
NM_001126131.2:c.1433+18_1433+28dup	NP_001119603.1:n.1433+18_1433+28dup
NM_002693.3:c.1433+18_1433+28dup MANE Select	NP_002684.1:n.1433+18_1433+28dup