Canonical Allele Identifier: CA619857416

Gene: POLG

Linked Data

• dbSNP Id: rs1160182952
• gnomAD v2: 15-89868919-T-TA
• gnomAD v3: 15-89325688-T-TA
• gnomAD v4: 15-89325688-T-TA
• MyVariant Identifiers: chr15:g.89868919_89868920insA (hg19) ; chr15:g.89325688_89325689insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325689dup , CM000677.2:g.89325689dup	GRCh38
NC_000015.9:g.89868920dup , CM000677.1:g.89868920dup	GRCh37
NC_000015.8:g.87669924dup	NCBI36
NG_008218.1:g.14107dup
NG_008218.2:g.14107dup

Transcript Alleles

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