Canonical Allele Identifier: CA2805170404

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325733_89325736del , CM000677.2:g.89325733_89325736del	GRCh38
NC_000015.9:g.89868964_89868967del , CM000677.1:g.89868964_89868967del	GRCh37
NC_000015.8:g.87669968_87669971del	NCBI36
NG_008218.1:g.14061_14064del
NG_008218.2:g.14061_14064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-49_1713-46del	ENSP00000516154.1:n.1713-49_1713-46del
ENST00000268124.11:c.1713-49_1713-46del MANE Select	ENSP00000268124.5:n.1713-49_1713-46del
ENST00000530292.3:c.1314-49_1314-46del	ENSP00000432885.2:n.1314-49_1314-46del
ENST00000635986.2:c.1713-49_1713-46del	ENSP00000490653.2:n.1713-49_1713-46del
ENST00000636774.1:c.*280-49_*280-46del	ENSP00000489799.1:n.*280-49_*280-46del
ENST00000637238.1:c.450-49_450-46del	ENSP00000490756.1:n.450-49_450-46del
ENST00000637264.1:c.785-49_785-46del
ENST00000666746.1:c.1290-49_1290-46del
ENST00000670281.1:c.33-49_33-46del	ENSP00000499709.1:n.33-49_33-46del
ENST00000672071.1:n.1911-49_1911-46del
ENST00000672923.2:n.1816-49_1816-46del
ENST00000268124.9:c.1713-49_1713-46del	ENSP00000268124.5:n.1713-49_1713-46del
ENST00000442287.6:c.1713-49_1713-46del	ENSP00000399851.2:n.1713-49_1713-46del
ENST00000526314.2:c.95-49_95-46del
ENST00000631044.2:c.*1096-49_*1096-46del	ENSP00000486730.1:n.*1096-49_*1096-46del
NM_001126131.1:c.1713-49_1713-46del	NP_001119603.1:n.1713-49_1713-46del
NM_002693.2:c.1713-49_1713-46del	NP_002684.1:n.1713-49_1713-46del
NM_001126131.2:c.1713-49_1713-46del	NP_001119603.1:n.1713-49_1713-46del
NM_002693.3:c.1713-49_1713-46del MANE Select	NP_002684.1:n.1713-49_1713-46del