Canonical Allele Identifier: CA2739269672

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325456_89325457delinsCT , CM000677.2:g.89325456_89325457delinsCT	GRCh38
NC_000015.9:g.89868687_89868688delinsCT , CM000677.1:g.89868687_89868688delinsCT	GRCh37
NC_000015.8:g.87669691_87669692delinsCT	NCBI36
NG_008218.1:g.14339_14340delinsAG
NG_008218.2:g.14339_14340delinsAG

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1942_1943delinsAG MANE Select	NP_002684.1:p.Pro648Ser
ENST00000268124.11:c.1942_1943delinsAG MANE Select	ENSP00000268124.5:p.Pro648Ser
NM_001126131.1:c.1942_1943delinsAG	NP_001119603.1:p.Pro648Ser
NM_001126131.2:c.1942_1943delinsAG	NP_001119603.1:p.Pro648Ser
NM_002693.2:c.1942_1943delinsAG	NP_002684.1:p.Pro648Ser
ENST00000268124.9:c.1942_1943delinsAG	ENSP00000268124.5:p.Pro648Ser
ENST00000442287.6:c.1942_1943delinsAG	ENSP00000399851.2:p.Pro648Ser
ENST00000526314.2:c.324_325delinsAG
ENST00000526398.1:c.131_132delinsAG
ENST00000526573.1:n.28_29delinsAG
ENST00000530292.3:c.1543_1544delinsAG	ENSP00000432885.2:p.Pro515Ser
ENST00000532584.5:n.144_145delinsAG
ENST00000631044.2:c.*1325_*1326delinsAG	ENSP00000486730.1:n.*1325_*1326delinsAG
ENST00000635986.2:c.1942_1943delinsAG	ENSP00000490653.2:p.Pro648Ser
ENST00000636774.1:c.*509_*510delinsAG	ENSP00000489799.1:n.*509_*510delinsAG
ENST00000636937.2:c.1942_1943delinsAG	ENSP00000516154.1:p.Pro648Ser
ENST00000637238.1:c.646+33_646+34delinsAG	ENSP00000490756.1:n.646+33_646+34delinsAG
ENST00000637264.1:c.1014_1015delinsAG
ENST00000666746.1:c.1519_1520delinsAG
ENST00000670281.1:c.262_263delinsAG	ENSP00000499709.1:p.Pro88Ser
ENST00000672071.1:n.2140_2141delinsAG
ENST00000672923.2:n.2045_2046delinsAG