Canonical Allele Identifier: CA619857424

Gene: POLG

Linked Data

• dbSNP Id: rs1269490154
• gnomAD v2: 15-89868967-T-TG
• gnomAD v4: 15-89325736-T-TG
• MyVariant Identifiers: chr15:g.89868967_89868968insG (hg19) ; chr15:g.89325736_89325737insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325742dup , CM000677.2:g.89325742dup	GRCh38
NC_000015.9:g.89868973dup , CM000677.1:g.89868973dup	GRCh37
NC_000015.8:g.87669977dup	NCBI36
NG_008218.1:g.14059dup
NG_008218.2:g.14059dup

Transcript Alleles

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