Canonical Allele Identifier: CA2194550860

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325719_89325728delinsATGGTAAGGG , CM000677.2:g.89325719_89325728delinsATGGTAAGGG	GRCh38
NC_000015.9:g.89868950_89868959delinsATGGTAAGGG , CM000677.1:g.89868950_89868959delinsATGGTAAGGG	GRCh37
NC_000015.8:g.87669954_87669963delinsATGGTAAGGG	NCBI36
NG_008218.1:g.14068_14077delinsCCCTTACCAT
NG_008218.2:g.14068_14077delinsCCCTTACCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-42_1713-33delinsCCCTTACCAT	ENSP00000516154.1:n.1713-42_1713-33delinsCCCTTACCAT
ENST00000268124.11:c.1713-42_1713-33delinsCCCTTACCAT MANE Select	ENSP00000268124.5:n.1713-42_1713-33delinsCCCTTACCAT
ENST00000530292.3:c.1314-42_1314-33delinsCCCTTACCAT	ENSP00000432885.2:n.1314-42_1314-33delinsCCCTTACCAT
ENST00000635986.2:c.1713-42_1713-33delinsCCCTTACCAT	ENSP00000490653.2:n.1713-42_1713-33delinsCCCTTACCAT
ENST00000636774.1:c.*280-42_*280-33delinsCCCTTACCAT	ENSP00000489799.1:n.*280-42_*280-33delinsCCCTTACCAT
ENST00000637238.1:c.450-42_450-33delinsCCCTTACCAT	ENSP00000490756.1:n.450-42_450-33delinsCCCTTACCAT
ENST00000637264.1:c.785-42_785-33delinsCCCTTACCAT
ENST00000666746.1:c.1290-42_1290-33delinsCCCTTACCAT
ENST00000670281.1:c.33-42_33-33delinsCCCTTACCAT	ENSP00000499709.1:n.33-42_33-33delinsCCCTTACCAT
ENST00000672071.1:n.1911-42_1911-33delinsCCCTTACCAT
ENST00000672923.2:n.1816-42_1816-33delinsCCCTTACCAT
ENST00000268124.9:c.1713-42_1713-33delinsCCCTTACCAT	ENSP00000268124.5:n.1713-42_1713-33delinsCCCTTACCAT
ENST00000442287.6:c.1713-42_1713-33delinsCCCTTACCAT	ENSP00000399851.2:n.1713-42_1713-33delinsCCCTTACCAT
ENST00000526314.2:c.95-42_95-33delinsCCCTTACCAT
ENST00000631044.2:c.*1096-42_*1096-33delinsCCCTTACCAT	ENSP00000486730.1:n.*1096-42_*1096-33delinsCCCTTACCAT
NM_001126131.1:c.1713-42_1713-33delinsCCCTTACCAT	NP_001119603.1:n.1713-42_1713-33delinsCCCTTACCAT
NM_002693.2:c.1713-42_1713-33delinsCCCTTACCAT	NP_002684.1:n.1713-42_1713-33delinsCCCTTACCAT
NM_001126131.2:c.1713-42_1713-33delinsCCCTTACCAT	NP_001119603.1:n.1713-42_1713-33delinsCCCTTACCAT
NM_002693.3:c.1713-42_1713-33delinsCCCTTACCAT MANE Select	NP_002684.1:n.1713-42_1713-33delinsCCCTTACCAT