Canonical Allele Identifier: CA2805170384

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325704_89325706del , CM000677.2:g.89325704_89325706del	GRCh38
NC_000015.9:g.89868935_89868937del , CM000677.1:g.89868935_89868937del	GRCh37
NC_000015.8:g.87669939_87669941del	NCBI36
NG_008218.1:g.14090_14092del
NG_008218.2:g.14090_14092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-20_1713-18del	ENSP00000516154.1:n.1713-20_1713-18del
ENST00000268124.11:c.1713-20_1713-18del MANE Select	ENSP00000268124.5:n.1713-20_1713-18del
ENST00000530292.3:c.1314-20_1314-18del	ENSP00000432885.2:n.1314-20_1314-18del
ENST00000635986.2:c.1713-20_1713-18del	ENSP00000490653.2:n.1713-20_1713-18del
ENST00000636774.1:c.*280-20_*280-18del	ENSP00000489799.1:n.*280-20_*280-18del
ENST00000637238.1:c.450-20_450-18del	ENSP00000490756.1:n.450-20_450-18del
ENST00000637264.1:c.785-20_785-18del
ENST00000666746.1:c.1290-20_1290-18del
ENST00000670281.1:c.33-20_33-18del	ENSP00000499709.1:n.33-20_33-18del
ENST00000672071.1:n.1911-20_1911-18del
ENST00000672923.2:n.1816-20_1816-18del
ENST00000268124.9:c.1713-20_1713-18del	ENSP00000268124.5:n.1713-20_1713-18del
ENST00000442287.6:c.1713-20_1713-18del	ENSP00000399851.2:n.1713-20_1713-18del
ENST00000526314.2:c.95-20_95-18del
ENST00000631044.2:c.*1096-20_*1096-18del	ENSP00000486730.1:n.*1096-20_*1096-18del
NM_001126131.1:c.1713-20_1713-18del	NP_001119603.1:n.1713-20_1713-18del
NM_002693.2:c.1713-20_1713-18del	NP_002684.1:n.1713-20_1713-18del
NM_001126131.2:c.1713-20_1713-18del	NP_001119603.1:n.1713-20_1713-18del
NM_002693.3:c.1713-20_1713-18del MANE Select	NP_002684.1:n.1713-20_1713-18del