Canonical Allele Identifier: CA2194550889

Gene: POLG

Linked Data

• dbSNP Id: rs2055508524

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325735_89325737del , CM000677.2:g.89325735_89325737del	GRCh38
NC_000015.9:g.89868966_89868968del , CM000677.1:g.89868966_89868968del	GRCh37
NC_000015.8:g.87669970_87669972del	NCBI36
NG_008218.1:g.14063_14065del
NG_008218.2:g.14063_14065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-47_1713-45del	ENSP00000516154.1:n.1713-47_1713-45del
ENST00000268124.11:c.1713-47_1713-45del MANE Select	ENSP00000268124.5:n.1713-47_1713-45del
ENST00000530292.3:c.1314-47_1314-45del	ENSP00000432885.2:n.1314-47_1314-45del
ENST00000635986.2:c.1713-47_1713-45del	ENSP00000490653.2:n.1713-47_1713-45del
ENST00000636774.1:c.*280-47_*280-45del	ENSP00000489799.1:n.*280-47_*280-45del
ENST00000637238.1:c.450-47_450-45del	ENSP00000490756.1:n.450-47_450-45del
ENST00000637264.1:c.785-47_785-45del
ENST00000666746.1:c.1290-47_1290-45del
ENST00000670281.1:c.33-47_33-45del	ENSP00000499709.1:n.33-47_33-45del
ENST00000672071.1:n.1911-47_1911-45del
ENST00000672923.2:n.1816-47_1816-45del
ENST00000268124.9:c.1713-47_1713-45del	ENSP00000268124.5:n.1713-47_1713-45del
ENST00000442287.6:c.1713-47_1713-45del	ENSP00000399851.2:n.1713-47_1713-45del
ENST00000526314.2:c.95-47_95-45del
ENST00000631044.2:c.*1096-47_*1096-45del	ENSP00000486730.1:n.*1096-47_*1096-45del
NM_001126131.1:c.1713-47_1713-45del	NP_001119603.1:n.1713-47_1713-45del
NM_002693.2:c.1713-47_1713-45del	NP_002684.1:n.1713-47_1713-45del
NM_001126131.2:c.1713-47_1713-45del	NP_001119603.1:n.1713-47_1713-45del
NM_002693.3:c.1713-47_1713-45del MANE Select	NP_002684.1:n.1713-47_1713-45del