Canonical Allele Identifier: CA2630252742

Gene: POLG

Linked Data

• gnomAD v4: 15-89325712-T-TGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325713_89325715dup , CM000677.2:g.89325713_89325715dup	GRCh38
NC_000015.9:g.89868944_89868946dup , CM000677.1:g.89868944_89868946dup	GRCh37
NC_000015.8:g.87669948_87669950dup	NCBI36
NG_008218.1:g.14081_14083dup
NG_008218.2:g.14081_14083dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-29_1713-27dup	ENSP00000516154.1:n.1713-29_1713-27dup
ENST00000268124.11:c.1713-29_1713-27dup MANE Select	ENSP00000268124.5:n.1713-29_1713-27dup
ENST00000530292.3:c.1314-29_1314-27dup	ENSP00000432885.2:n.1314-29_1314-27dup
ENST00000635986.2:c.1713-29_1713-27dup	ENSP00000490653.2:n.1713-29_1713-27dup
ENST00000636774.1:c.*280-29_*280-27dup	ENSP00000489799.1:n.*280-29_*280-27dup
ENST00000637238.1:c.450-29_450-27dup	ENSP00000490756.1:n.450-29_450-27dup
ENST00000637264.1:c.785-29_785-27dup
ENST00000666746.1:c.1290-29_1290-27dup
ENST00000670281.1:c.33-29_33-27dup	ENSP00000499709.1:n.33-29_33-27dup
ENST00000672071.1:n.1911-29_1911-27dup
ENST00000672923.2:n.1816-29_1816-27dup
ENST00000268124.9:c.1713-29_1713-27dup	ENSP00000268124.5:n.1713-29_1713-27dup
ENST00000442287.6:c.1713-29_1713-27dup	ENSP00000399851.2:n.1713-29_1713-27dup
ENST00000526314.2:c.95-29_95-27dup
ENST00000631044.2:c.*1096-29_*1096-27dup	ENSP00000486730.1:n.*1096-29_*1096-27dup
NM_001126131.1:c.1713-29_1713-27dup	NP_001119603.1:n.1713-29_1713-27dup
NM_002693.2:c.1713-29_1713-27dup	NP_002684.1:n.1713-29_1713-27dup
NM_001126131.2:c.1713-29_1713-27dup	NP_001119603.1:n.1713-29_1713-27dup
NM_002693.3:c.1713-29_1713-27dup MANE Select	NP_002684.1:n.1713-29_1713-27dup