Canonical Allele Identifier: CA2194549376
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325318_89325319delinsAT , CM000677.2:g.89325318_89325319delinsAT GRCh38
NC_000015.9:g.89868549_89868550delinsAT , CM000677.1:g.89868549_89868550delinsAT GRCh37
NC_000015.8:g.87669553_87669554delinsAT NCBI36
NG_008218.1:g.14477_14478delinsAT
NG_008218.2:g.14477_14478delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1949+131_1949+132delinsAT ENSP00000516154.1:n.1949+131_1949+132delinsAT
ENST00000268124.11:c.1949+131_1949+132delinsAT MANE Select ENSP00000268124.5:n.1949+131_1949+132delinsAT
ENST00000530292.3:c.1550+131_1550+132delinsAT ENSP00000432885.2:n.1550+131_1550+132delinsAT
ENST00000635986.2:c.1949+131_1949+132delinsAT ENSP00000490653.2:n.1949+131_1949+132delinsAT
ENST00000636774.1:c.*516+131_*516+132delinsAT ENSP00000489799.1:n.*516+131_*516+132delinsAT
ENST00000637238.1:c.646+171_646+172delinsAT ENSP00000490756.1:n.646+171_646+172delinsAT
ENST00000637264.1:c.1021+131_1021+132delinsAT
ENST00000666746.1:c.1526+131_1526+132delinsAT
ENST00000670281.1:c.269+131_269+132delinsAT ENSP00000499709.1:n.269+131_269+132delinsAT
ENST00000672071.1:n.2147+131_2147+132delinsAT
ENST00000672923.2:n.2052+131_2052+132delinsAT
ENST00000268124.9:c.1949+131_1949+132delinsAT ENSP00000268124.5:n.1949+131_1949+132delinsAT
ENST00000442287.6:c.1949+131_1949+132delinsAT ENSP00000399851.2:n.1949+131_1949+132delinsAT
ENST00000526314.2:c.331+131_331+132delinsAT
ENST00000526398.1:c.138+131_138+132delinsAT
ENST00000526573.1:n.35+131_35+132delinsAT
ENST00000532584.5:n.151+131_151+132delinsAT
ENST00000631044.2:c.*1332+131_*1332+132delinsAT ENSP00000486730.1:n.*1332+131_*1332+132delinsAT
NM_001126131.1:c.1949+131_1949+132delinsAT NP_001119603.1:n.1949+131_1949+132delinsAT
NM_002693.2:c.1949+131_1949+132delinsAT NP_002684.1:n.1949+131_1949+132delinsAT
NM_001126131.2:c.1949+131_1949+132delinsAT NP_001119603.1:n.1949+131_1949+132delinsAT
NM_002693.3:c.1949+131_1949+132delinsAT MANE Select NP_002684.1:n.1949+131_1949+132delinsAT