Canonical Allele Identifier: CA7725012

Gene: POLG

Linked Data

• ClinVar Variation Id: 1256102
• ClinVar RCV Id: RCV001663444 ; RCV003106246
• dbSNP Id: rs200056162
• ExAC: 15:89872343 T / TGAG
• gnomAD v2: 15-89872343-T-TGAG
• gnomAD v3: 15-89329112-T-TGAG
• gnomAD v4: 15-89329112-T-TGAG
• MyVariant Identifiers: chr15:g.89872346_89872347insGAG (hg19) ; chr15:g.89872343_89872344insGAG (hg19) ; chr15:g.89329112_89329113insGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329125_89329127dup , CM000677.2:g.89329125_89329127dup	GRCh38
NC_000015.9:g.89872356_89872358dup , CM000677.1:g.89872356_89872358dup	GRCh37
NC_000015.8:g.87673360_87673362dup	NCBI36
NG_008218.1:g.10681_10683dup
NG_008218.2:g.10681_10683dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.856-5_856-3dup	ENSP00000516154.1:n.856-5_856-3dup
ENST00000268124.11:c.856-5_856-3dup MANE Select	ENSP00000268124.5:n.856-5_856-3dup
ENST00000530292.3:c.457-5_457-3dup	ENSP00000432885.2:n.457-5_457-3dup
ENST00000635986.2:c.856-5_856-3dup	ENSP00000490653.2:n.856-5_856-3dup
ENST00000636774.1:c.856-5_856-3dup	ENSP00000489799.1:n.856-5_856-3dup
ENST00000666746.1:c.513-5_513-3dup
ENST00000672071.1:n.1054-5_1054-3dup
ENST00000268124.9:c.856-5_856-3dup	ENSP00000268124.5:n.856-5_856-3dup
ENST00000442287.6:c.856-5_856-3dup	ENSP00000399851.2:n.856-5_856-3dup
ENST00000631044.2:c.*239-5_*239-3dup	ENSP00000486730.1:n.*239-5_*239-3dup
NM_001126131.1:c.856-5_856-3dup	NP_001119603.1:n.856-5_856-3dup
NM_002693.2:c.856-5_856-3dup	NP_002684.1:n.856-5_856-3dup
NM_001126131.2:c.856-5_856-3dup	NP_001119603.1:n.856-5_856-3dup
NM_002693.3:c.856-5_856-3dup MANE Select	NP_002684.1:n.856-5_856-3dup