Canonical Allele Identifier: CA972590060

Gene: POLG

Linked Data

• dbSNP Id: rs369739939
• gnomAD v3: 15-89325298-G-GT
• gnomAD v4: 15-89325298-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325298_89325299insT , CM000677.2:g.89325298_89325299insT	GRCh38
NC_000015.9:g.89868529_89868530insT , CM000677.1:g.89868529_89868530insT	GRCh37
NC_000015.8:g.87669533_87669534insT	NCBI36
NG_008218.1:g.14497_14498insA
NG_008218.2:g.14497_14498insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+151_1949+152insA	ENSP00000516154.1:n.1949+151_1949+152insA
ENST00000268124.11:c.1949+151_1949+152insA MANE Select	ENSP00000268124.5:n.1949+151_1949+152insA
ENST00000530292.3:c.1550+151_1550+152insA	ENSP00000432885.2:n.1550+151_1550+152insA
ENST00000635986.2:c.1949+151_1949+152insA	ENSP00000490653.2:n.1949+151_1949+152insA
ENST00000636774.1:c.*516+151_*516+152insA	ENSP00000489799.1:n.*516+151_*516+152insA
ENST00000637238.1:c.646+191_646+192insA	ENSP00000490756.1:n.646+191_646+192insA
ENST00000637264.1:c.1021+151_1021+152insA
ENST00000666746.1:c.1526+151_1526+152insA
ENST00000670281.1:c.269+151_269+152insA	ENSP00000499709.1:n.269+151_269+152insA
ENST00000672071.1:n.2147+151_2147+152insA
ENST00000672923.2:n.2052+151_2052+152insA
ENST00000268124.9:c.1949+151_1949+152insA	ENSP00000268124.5:n.1949+151_1949+152insA
ENST00000442287.6:c.1949+151_1949+152insA	ENSP00000399851.2:n.1949+151_1949+152insA
ENST00000526314.2:c.331+151_331+152insA
ENST00000526398.1:c.138+151_138+152insA
ENST00000526573.1:n.35+151_35+152insA
ENST00000532584.5:n.151+151_151+152insA
ENST00000631044.2:c.*1332+151_*1332+152insA	ENSP00000486730.1:n.*1332+151_*1332+152insA
NM_001126131.1:c.1949+151_1949+152insA	NP_001119603.1:n.1949+151_1949+152insA
NM_002693.2:c.1949+151_1949+152insA	NP_002684.1:n.1949+151_1949+152insA
NM_001126131.2:c.1949+151_1949+152insA	NP_001119603.1:n.1949+151_1949+152insA
NM_002693.3:c.1949+151_1949+152insA MANE Select	NP_002684.1:n.1949+151_1949+152insA