Canonical Allele Identifier: CA7724710

Gene: POLG

Linked Data

• dbSNP Id: rs750737745
• ExAC: 15:89868950 ATGGTAAGGG / A
• gnomAD v2: 15-89868950-ATGGTAAGGG-A
• gnomAD v4: 15-89325719-ATGGTAAGGG-A
• MyVariant Identifiers: chr15:g.89868951_89868959del (hg19) ; chr15:g.89325720_89325728del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325720_89325728del , CM000677.2:g.89325720_89325728del	GRCh38
NC_000015.9:g.89868951_89868959del , CM000677.1:g.89868951_89868959del	GRCh37
NC_000015.8:g.87669955_87669963del	NCBI36
NG_008218.1:g.14068_14076del
NG_008218.2:g.14068_14076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-42_1713-34del	ENSP00000516154.1:n.1713-42_1713-34del
ENST00000268124.11:c.1713-42_1713-34del MANE Select	ENSP00000268124.5:n.1713-42_1713-34del
ENST00000530292.3:c.1314-42_1314-34del	ENSP00000432885.2:n.1314-42_1314-34del
ENST00000635986.2:c.1713-42_1713-34del	ENSP00000490653.2:n.1713-42_1713-34del
ENST00000636774.1:c.*280-42_*280-34del	ENSP00000489799.1:n.*280-42_*280-34del
ENST00000637238.1:c.450-42_450-34del	ENSP00000490756.1:n.450-42_450-34del
ENST00000637264.1:c.785-42_785-34del
ENST00000666746.1:c.1290-42_1290-34del
ENST00000670281.1:c.33-42_33-34del	ENSP00000499709.1:n.33-42_33-34del
ENST00000672071.1:n.1911-42_1911-34del
ENST00000672923.2:n.1816-42_1816-34del
ENST00000268124.9:c.1713-42_1713-34del	ENSP00000268124.5:n.1713-42_1713-34del
ENST00000442287.6:c.1713-42_1713-34del	ENSP00000399851.2:n.1713-42_1713-34del
ENST00000526314.2:c.95-42_95-34del
ENST00000631044.2:c.*1096-42_*1096-34del	ENSP00000486730.1:n.*1096-42_*1096-34del
NM_001126131.1:c.1713-42_1713-34del	NP_001119603.1:n.1713-42_1713-34del
NM_002693.2:c.1713-42_1713-34del	NP_002684.1:n.1713-42_1713-34del
NM_001126131.2:c.1713-42_1713-34del	NP_001119603.1:n.1713-42_1713-34del
NM_002693.3:c.1713-42_1713-34del MANE Select	NP_002684.1:n.1713-42_1713-34del