Canonical Allele Identifier: CA2805170421

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325742_89325757del , CM000677.2:g.89325742_89325757del	GRCh38
NC_000015.9:g.89868973_89868988del , CM000677.1:g.89868973_89868988del	GRCh37
NC_000015.8:g.87669977_87669992del	NCBI36
NG_008218.1:g.14039_14054del
NG_008218.2:g.14039_14054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-71_1713-56del	ENSP00000516154.1:n.1713-71_1713-56del
ENST00000268124.11:c.1713-71_1713-56del MANE Select	ENSP00000268124.5:n.1713-71_1713-56del
ENST00000530292.3:c.1314-71_1314-56del	ENSP00000432885.2:n.1314-71_1314-56del
ENST00000635986.2:c.1713-71_1713-56del	ENSP00000490653.2:n.1713-71_1713-56del
ENST00000636774.1:c.*280-71_*280-56del	ENSP00000489799.1:n.*280-71_*280-56del
ENST00000637238.1:c.450-71_450-56del	ENSP00000490756.1:n.450-71_450-56del
ENST00000637264.1:c.785-71_785-56del
ENST00000666746.1:c.1290-71_1290-56del
ENST00000670281.1:c.33-71_33-56del	ENSP00000499709.1:n.33-71_33-56del
ENST00000672071.1:n.1911-71_1911-56del
ENST00000672923.2:n.1816-71_1816-56del
ENST00000268124.9:c.1713-71_1713-56del	ENSP00000268124.5:n.1713-71_1713-56del
ENST00000442287.6:c.1713-71_1713-56del	ENSP00000399851.2:n.1713-71_1713-56del
ENST00000526314.2:c.95-71_95-56del
ENST00000631044.2:c.*1096-71_*1096-56del	ENSP00000486730.1:n.*1096-71_*1096-56del
NM_001126131.1:c.1713-71_1713-56del	NP_001119603.1:n.1713-71_1713-56del
NM_002693.2:c.1713-71_1713-56del	NP_002684.1:n.1713-71_1713-56del
NM_001126131.2:c.1713-71_1713-56del	NP_001119603.1:n.1713-71_1713-56del
NM_002693.3:c.1713-71_1713-56del MANE Select	NP_002684.1:n.1713-71_1713-56del