Canonical Allele Identifier: CA274540531

Gene: POLG

Linked Data

• ClinVar Variation Id: 1295798
• ClinVar RCV Id: RCV001723046
• dbSNP Id: rs3176229
• gnomAD v2: 15-89861578-C-CT
• gnomAD v3: 15-89318347-C-CT
• gnomAD v4: 15-89318347-C-CT
• MyVariant Identifiers: chr15:g.89861581_89861582insT (hg19) ; chr15:g.89861578_89861579insT (hg19) ; chr15:g.89318350_89318351insT (hg38) ; chr15:g.89318347_89318348insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318354dup , CM000677.2:g.89318354dup	GRCh38
NC_000015.9:g.89861585dup , CM000677.1:g.89861585dup	GRCh37
NC_000015.8:g.87662589dup	NCBI36
NG_008218.1:g.21448dup
NG_011736.1:g.79392dup , LRG_500:g.79392dup
NG_008218.2:g.21448dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+193dup	ENSP00000516154.1:n.3482+193dup
ENST00000268124.11:c.3482+193dup MANE Select	ENSP00000268124.5:n.3482+193dup
ENST00000530292.3:c.3083+193dup	ENSP00000432885.2:n.3083+193dup
ENST00000635986.2:c.*552+193dup	ENSP00000490653.2:n.*552+193dup
ENST00000636774.1:c.*2049+193dup	ENSP00000489799.1:n.*2049+193dup
ENST00000637238.1:c.2291+193dup	ENSP00000490756.1:n.2291+193dup
ENST00000637264.1:c.2554+193dup
ENST00000666746.1:c.3059+193dup
ENST00000672071.1:n.3873dup
ENST00000672695.1:n.852dup
ENST00000672923.2:n.3482+193dup
ENST00000268124.9:c.3482+193dup	ENSP00000268124.5:n.3482+193dup
ENST00000442287.6:c.3482+193dup	ENSP00000399851.2:n.3482+193dup
ENST00000530292.2:c.566+193dup	ENSP00000432885.1:n.566+193dup
ENST00000631044.2:c.*2906+193dup	ENSP00000486730.1:n.*2906+193dup
NM_001126131.1:c.3482+193dup	NP_001119603.1:n.3482+193dup
NM_002693.2:c.3482+193dup	NP_002684.1:n.3482+193dup
NM_001126131.2:c.3482+193dup	NP_001119603.1:n.3482+193dup
NM_002693.3:c.3482+193dup MANE Select	NP_002684.1:n.3482+193dup