Canonical Allele Identifier: CA2630251968

Gene: POLG

Linked Data

• gnomAD v4: 15-89325307-T-TGTGTGTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325314_89325315insAGTGTGTG , CM000677.2:g.89325314_89325315insAGTGTGTG	GRCh38
NC_000015.9:g.89868545_89868546insAGTGTGTG , CM000677.1:g.89868545_89868546insAGTGTGTG	GRCh37
NC_000015.8:g.87669549_87669550insAGTGTGTG	NCBI36
NG_008218.1:g.14488_14489insTCACACAC
NG_008218.2:g.14488_14489insTCACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+142_1949+143insTCACACAC	ENSP00000516154.1:n.1949+142_1949+143insTCACACAC
ENST00000268124.11:c.1949+142_1949+143insTCACACAC MANE Select	ENSP00000268124.5:n.1949+142_1949+143insTCACACAC
ENST00000530292.3:c.1550+142_1550+143insTCACACAC	ENSP00000432885.2:n.1550+142_1550+143insTCACACAC
ENST00000635986.2:c.1949+142_1949+143insTCACACAC	ENSP00000490653.2:n.1949+142_1949+143insTCACACAC
ENST00000636774.1:c.*516+142_*516+143insTCACACAC	ENSP00000489799.1:n.*516+142_*516+143insTCACACAC
ENST00000637238.1:c.646+182_646+183insTCACACAC	ENSP00000490756.1:n.646+182_646+183insTCACACAC
ENST00000637264.1:c.1021+142_1021+143insTCACACAC
ENST00000666746.1:c.1526+142_1526+143insTCACACAC
ENST00000670281.1:c.269+142_269+143insTCACACAC	ENSP00000499709.1:n.269+142_269+143insTCACACAC
ENST00000672071.1:n.2147+142_2147+143insTCACACAC
ENST00000672923.2:n.2052+142_2052+143insTCACACAC
ENST00000268124.9:c.1949+142_1949+143insTCACACAC	ENSP00000268124.5:n.1949+142_1949+143insTCACACAC
ENST00000442287.6:c.1949+142_1949+143insTCACACAC	ENSP00000399851.2:n.1949+142_1949+143insTCACACAC
ENST00000526314.2:c.331+142_331+143insTCACACAC
ENST00000526398.1:c.138+142_138+143insTCACACAC
ENST00000526573.1:n.35+142_35+143insTCACACAC
ENST00000532584.5:n.151+142_151+143insTCACACAC
ENST00000631044.2:c.*1332+142_*1332+143insTCACACAC	ENSP00000486730.1:n.*1332+142_*1332+143insTCACACAC
NM_001126131.1:c.1949+142_1949+143insTCACACAC	NP_001119603.1:n.1949+142_1949+143insTCACACAC
NM_002693.2:c.1949+142_1949+143insTCACACAC	NP_002684.1:n.1949+142_1949+143insTCACACAC
NM_001126131.2:c.1949+142_1949+143insTCACACAC	NP_001119603.1:n.1949+142_1949+143insTCACACAC
NM_002693.3:c.1949+142_1949+143insTCACACAC MANE Select	NP_002684.1:n.1949+142_1949+143insTCACACAC