Canonical Allele Identifier: CA2194550916

Gene: POLG

Linked Data

• dbSNP Id: rs1269490154

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325740_89325742del , CM000677.2:g.89325740_89325742del	GRCh38
NC_000015.9:g.89868971_89868973del , CM000677.1:g.89868971_89868973del	GRCh37
NC_000015.8:g.87669975_87669977del	NCBI36
NG_008218.1:g.14057_14059del
NG_008218.2:g.14057_14059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-53_1713-51del	ENSP00000516154.1:n.1713-53_1713-51del
ENST00000268124.11:c.1713-53_1713-51del MANE Select	ENSP00000268124.5:n.1713-53_1713-51del
ENST00000530292.3:c.1314-53_1314-51del	ENSP00000432885.2:n.1314-53_1314-51del
ENST00000635986.2:c.1713-53_1713-51del	ENSP00000490653.2:n.1713-53_1713-51del
ENST00000636774.1:c.*280-53_*280-51del	ENSP00000489799.1:n.*280-53_*280-51del
ENST00000637238.1:c.450-53_450-51del	ENSP00000490756.1:n.450-53_450-51del
ENST00000637264.1:c.785-53_785-51del
ENST00000666746.1:c.1290-53_1290-51del
ENST00000670281.1:c.33-53_33-51del	ENSP00000499709.1:n.33-53_33-51del
ENST00000672071.1:n.1911-53_1911-51del
ENST00000672923.2:n.1816-53_1816-51del
ENST00000268124.9:c.1713-53_1713-51del	ENSP00000268124.5:n.1713-53_1713-51del
ENST00000442287.6:c.1713-53_1713-51del	ENSP00000399851.2:n.1713-53_1713-51del
ENST00000526314.2:c.95-53_95-51del
ENST00000631044.2:c.*1096-53_*1096-51del	ENSP00000486730.1:n.*1096-53_*1096-51del
NM_001126131.1:c.1713-53_1713-51del	NP_001119603.1:n.1713-53_1713-51del
NM_002693.2:c.1713-53_1713-51del	NP_002684.1:n.1713-53_1713-51del
NM_001126131.2:c.1713-53_1713-51del	NP_001119603.1:n.1713-53_1713-51del
NM_002693.3:c.1713-53_1713-51del MANE Select	NP_002684.1:n.1713-53_1713-51del