Canonical Allele Identifier: CA274553792

Gene: POLG

Linked Data

• dbSNP Id: rs145083754
• gnomAD v2: 15-89868515-A-AAG
• gnomAD v3: 15-89325284-A-AAG
• gnomAD v4: 15-89325284-A-AAG
• MyVariant Identifiers: chr15:g.89868519_89868520insAG (hg19) ; chr15:g.89868515_89868516insAG (hg19) ; chr15:g.89325288_89325289insAG (hg38) ; chr15:g.89325284_89325285insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325297_89325298dup , CM000677.2:g.89325297_89325298dup	GRCh38
NC_000015.9:g.89868528_89868529dup , CM000677.1:g.89868528_89868529dup	GRCh37
NC_000015.8:g.87669532_87669533dup	NCBI36
NG_008218.1:g.14510_14511dup
NG_008218.2:g.14510_14511dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+164_1949+165dup	ENSP00000516154.1:n.1949+164_1949+165dup
ENST00000268124.11:c.1949+164_1949+165dup MANE Select	ENSP00000268124.5:n.1949+164_1949+165dup
ENST00000530292.3:c.1550+164_1550+165dup	ENSP00000432885.2:n.1550+164_1550+165dup
ENST00000635986.2:c.1949+164_1949+165dup	ENSP00000490653.2:n.1949+164_1949+165dup
ENST00000636774.1:c.*516+164_*516+165dup	ENSP00000489799.1:n.*516+164_*516+165dup
ENST00000637238.1:c.646+204_646+205dup	ENSP00000490756.1:n.646+204_646+205dup
ENST00000637264.1:c.1021+164_1021+165dup
ENST00000666746.1:c.1526+164_1526+165dup
ENST00000670281.1:c.269+164_269+165dup	ENSP00000499709.1:n.269+164_269+165dup
ENST00000672071.1:n.2147+164_2147+165dup
ENST00000672923.2:n.2052+164_2052+165dup
ENST00000268124.9:c.1949+164_1949+165dup	ENSP00000268124.5:n.1949+164_1949+165dup
ENST00000442287.6:c.1949+164_1949+165dup	ENSP00000399851.2:n.1949+164_1949+165dup
ENST00000526314.2:c.331+164_331+165dup
ENST00000526398.1:c.138+164_138+165dup
ENST00000526573.1:n.35+164_35+165dup
ENST00000532584.5:n.151+164_151+165dup
ENST00000631044.2:c.*1332+164_*1332+165dup	ENSP00000486730.1:n.*1332+164_*1332+165dup
NM_001126131.1:c.1949+164_1949+165dup	NP_001119603.1:n.1949+164_1949+165dup
NM_002693.2:c.1949+164_1949+165dup	NP_002684.1:n.1949+164_1949+165dup
NM_001126131.2:c.1949+164_1949+165dup	NP_001119603.1:n.1949+164_1949+165dup
NM_002693.3:c.1949+164_1949+165dup MANE Select	NP_002684.1:n.1949+164_1949+165dup