Canonical Allele Identifier: CA2630256269

Gene: POLG

Linked Data

• gnomAD v4: 15-89329175-A-AAGCAGTGGTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329175_89329176insAGCAGTGGTGGG , CM000677.2:g.89329175_89329176insAGCAGTGGTGGG	GRCh38
NC_000015.9:g.89872406_89872407insAGCAGTGGTGGG , CM000677.1:g.89872406_89872407insAGCAGTGGTGGG	GRCh37
NC_000015.8:g.87673410_87673411insAGCAGTGGTGGG	NCBI36
NG_008218.1:g.10620_10621insCCCACCACTGCT
NG_008218.2:g.10620_10621insCCCACCACTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.856-66_856-65insCCCACCACTGCT	ENSP00000516154.1:n.856-66_856-65insCCCACCACTGCT
ENST00000268124.11:c.856-66_856-65insCCCACCACTGCT MANE Select	ENSP00000268124.5:n.856-66_856-65insCCCACCACTGCT
ENST00000530292.3:c.457-66_457-65insCCCACCACTGCT	ENSP00000432885.2:n.457-66_457-65insCCCACCACTGCT
ENST00000635986.2:c.856-66_856-65insCCCACCACTGCT	ENSP00000490653.2:n.856-66_856-65insCCCACCACTGCT
ENST00000636774.1:c.856-66_856-65insCCCACCACTGCT	ENSP00000489799.1:n.856-66_856-65insCCCACCACTGCT
ENST00000666746.1:c.513-66_513-65insCCCACCACTGCT
ENST00000672071.1:n.1054-66_1054-65insCCCACCACTGCT
ENST00000268124.9:c.856-66_856-65insCCCACCACTGCT	ENSP00000268124.5:n.856-66_856-65insCCCACCACTGCT
ENST00000442287.6:c.856-66_856-65insCCCACCACTGCT	ENSP00000399851.2:n.856-66_856-65insCCCACCACTGCT
ENST00000631044.2:c.*239-66_*239-65insCCCACCACTGCT	ENSP00000486730.1:n.*239-66_*239-65insCCCACCACTGCT
NM_001126131.1:c.856-66_856-65insCCCACCACTGCT	NP_001119603.1:n.856-66_856-65insCCCACCACTGCT
NM_002693.2:c.856-66_856-65insCCCACCACTGCT	NP_002684.1:n.856-66_856-65insCCCACCACTGCT
NM_001126131.2:c.856-66_856-65insCCCACCACTGCT	NP_001119603.1:n.856-66_856-65insCCCACCACTGCT
NM_002693.3:c.856-66_856-65insCCCACCACTGCT MANE Select	NP_002684.1:n.856-66_856-65insCCCACCACTGCT