Canonical Allele Identifier: CA2194549151
Gene: POLG HGNC NCBI

Linked Data

dbSNP Id: rs71149294

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325298_89325299insAGAGAGGGTGTG , CM000677.2:g.89325298_89325299insAGAGAGGGTGTG GRCh38
NC_000015.9:g.89868529_89868530insAGAGAGGGTGTG , CM000677.1:g.89868529_89868530insAGAGAGGGTGTG GRCh37
NC_000015.8:g.87669533_87669534insAGAGAGGGTGTG NCBI36
NG_008218.1:g.14498_14499insACACCCTCTCTC
NG_008218.2:g.14498_14499insACACCCTCTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1949+152_1949+153insACACCCTCTCTC ENSP00000516154.1:n.1949+152_1949+153insACACCCTCTCTC
ENST00000268124.11:c.1949+152_1949+153insACACCCTCTCTC MANE Select ENSP00000268124.5:n.1949+152_1949+153insACACCCTCTCTC
ENST00000530292.3:c.1550+152_1550+153insACACCCTCTCTC ENSP00000432885.2:n.1550+152_1550+153insACACCCTCTCTC
ENST00000635986.2:c.1949+152_1949+153insACACCCTCTCTC ENSP00000490653.2:n.1949+152_1949+153insACACCCTCTCTC
ENST00000636774.1:c.*516+152_*516+153insACACCCTCTCTC ENSP00000489799.1:n.*516+152_*516+153insACACCCTCTCTC
ENST00000637238.1:c.646+192_646+193insACACCCTCTCTC ENSP00000490756.1:n.646+192_646+193insACACCCTCTCTC
ENST00000637264.1:c.1021+152_1021+153insACACCCTCTCTC
ENST00000666746.1:c.1526+152_1526+153insACACCCTCTCTC
ENST00000670281.1:c.269+152_269+153insACACCCTCTCTC ENSP00000499709.1:n.269+152_269+153insACACCCTCTCTC
ENST00000672071.1:n.2147+152_2147+153insACACCCTCTCTC
ENST00000672923.2:n.2052+152_2052+153insACACCCTCTCTC
ENST00000268124.9:c.1949+152_1949+153insACACCCTCTCTC ENSP00000268124.5:n.1949+152_1949+153insACACCCTCTCTC
ENST00000442287.6:c.1949+152_1949+153insACACCCTCTCTC ENSP00000399851.2:n.1949+152_1949+153insACACCCTCTCTC
ENST00000526314.2:c.331+152_331+153insACACCCTCTCTC
ENST00000526398.1:c.138+152_138+153insACACCCTCTCTC
ENST00000526573.1:n.35+152_35+153insACACCCTCTCTC
ENST00000532584.5:n.151+152_151+153insACACCCTCTCTC
ENST00000631044.2:c.*1332+152_*1332+153insACACCCTCTCTC ENSP00000486730.1:n.*1332+152_*1332+153insACACCCTCTCTC
NM_001126131.1:c.1949+152_1949+153insACACCCTCTCTC NP_001119603.1:n.1949+152_1949+153insACACCCTCTCTC
NM_002693.2:c.1949+152_1949+153insACACCCTCTCTC NP_002684.1:n.1949+152_1949+153insACACCCTCTCTC
NM_001126131.2:c.1949+152_1949+153insACACCCTCTCTC NP_001119603.1:n.1949+152_1949+153insACACCCTCTCTC
NM_002693.3:c.1949+152_1949+153insACACCCTCTCTC MANE Select NP_002684.1:n.1949+152_1949+153insACACCCTCTCTC