Canonical Allele Identifier: CA716910003

Gene: POLG

Linked Data

• dbSNP Id: rs1340339530
• MyVariant Identifiers: chr15:g.89868543_89868544insTT (hg19) ; chr15:g.89325312_89325313insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325313_89325314insTT , CM000677.2:g.89325313_89325314insTT	GRCh38
NC_000015.9:g.89868544_89868545insTT , CM000677.1:g.89868544_89868545insTT	GRCh37
NC_000015.8:g.87669548_87669549insTT	NCBI36
NG_008218.1:g.14483_14484insAA
NG_008218.2:g.14483_14484insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+137_1949+138insAA	ENSP00000516154.1:n.1949+137_1949+138insAA
ENST00000268124.11:c.1949+137_1949+138insAA MANE Select	ENSP00000268124.5:n.1949+137_1949+138insAA
ENST00000530292.3:c.1550+137_1550+138insAA	ENSP00000432885.2:n.1550+137_1550+138insAA
ENST00000635986.2:c.1949+137_1949+138insAA	ENSP00000490653.2:n.1949+137_1949+138insAA
ENST00000636774.1:c.*516+137_*516+138insAA	ENSP00000489799.1:n.*516+137_*516+138insAA
ENST00000637238.1:c.646+177_646+178insAA	ENSP00000490756.1:n.646+177_646+178insAA
ENST00000637264.1:c.1021+137_1021+138insAA
ENST00000666746.1:c.1526+137_1526+138insAA
ENST00000670281.1:c.269+137_269+138insAA	ENSP00000499709.1:n.269+137_269+138insAA
ENST00000672071.1:n.2147+137_2147+138insAA
ENST00000672923.2:n.2052+137_2052+138insAA
ENST00000268124.9:c.1949+137_1949+138insAA	ENSP00000268124.5:n.1949+137_1949+138insAA
ENST00000442287.6:c.1949+137_1949+138insAA	ENSP00000399851.2:n.1949+137_1949+138insAA
ENST00000526314.2:c.331+137_331+138insAA
ENST00000526398.1:c.138+137_138+138insAA
ENST00000526573.1:n.35+137_35+138insAA
ENST00000532584.5:n.151+137_151+138insAA
ENST00000631044.2:c.*1332+137_*1332+138insAA	ENSP00000486730.1:n.*1332+137_*1332+138insAA
NM_001126131.1:c.1949+137_1949+138insAA	NP_001119603.1:n.1949+137_1949+138insAA
NM_002693.2:c.1949+137_1949+138insAA	NP_002684.1:n.1949+137_1949+138insAA
NM_001126131.2:c.1949+137_1949+138insAA	NP_001119603.1:n.1949+137_1949+138insAA
NM_002693.3:c.1949+137_1949+138insAA MANE Select	NP_002684.1:n.1949+137_1949+138insAA