Canonical Allele Identifier: CA316640

Gene: POLG

Linked Data

• ClinVar Variation Id: 206496
• ClinVar RCV Id: RCV000188547 ; RCV000676326 ; RCV001080908 ; RCV002444764
• dbSNP Id: rs200056162
• ExAC: 15:89872343 TGAG / T
• gnomAD v2: 15-89872343-TGAG-T
• gnomAD v3: 15-89329112-TGAG-T
• gnomAD v4: 15-89329112-TGAG-T
• MyVariant Identifiers: chr15:g.89872344_89872346del (hg19) ; chr15:g.89329114_89329116del (hg38) ; chr15:g.89329113_89329115del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329125_89329127del , CM000677.2:g.89329125_89329127del	GRCh38
NC_000015.9:g.89872356_89872358del , CM000677.1:g.89872356_89872358del	GRCh37
NC_000015.8:g.87673360_87673362del	NCBI36
NG_008218.1:g.10681_10683del
NG_008218.2:g.10681_10683del

Transcript Alleles

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