Canonical Allele Identifier: CA2630255353
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323260_89323261insAACTGTC , CM000677.2:g.89323260_89323261insAACTGTC GRCh38
NC_000015.9:g.89866491_89866492insAACTGTC , CM000677.1:g.89866491_89866492insAACTGTC GRCh37
NC_000015.8:g.87667495_87667496insAACTGTC NCBI36
NG_008218.1:g.16535_16536insGACAGTT
NG_008218.2:g.16535_16536insGACAGTT

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2265+143_2265+144insGACAGTT ENSP00000516154.1:n.2265+143_2265+144insG...
ENST00000268124.11:c.2265+143_2265+144insGACAGTT MANE Select ENSP00000268124.5:n.2265+143_2265+144insG...
ENST00000530292.3:c.1866+143_1866+144insGACAGTT ENSP00000432885.2:n.1866+143_1866+144insG...
ENST00000635986.2:c.2265+143_2265+144insGACAGTT ENSP00000490653.2:n.2265+143_2265+144insG...
ENST00000636774.1:c.*832+143_*832+144insGACAGTT ENSP00000489799.1:n.*832+143_*832+144insG...
ENST00000637238.1:c.962+143_962+144insGACAGTT ENSP00000490756.1:n.962+143_962+144insGAC...
ENST00000637264.1:c.1337+143_1337+144insGACAGTT
ENST00000666746.1:c.1842+143_1842+144insGACAGTT
ENST00000670281.1:c.585+143_585+144insGACAGTT ENSP00000499709.1:n.585+143_585+144insGAC...
ENST00000672071.1:n.2463+143_2463+144insGACAGTT
ENST00000672923.2:n.2368+143_2368+144insGACAGTT
ENST00000268124.9:c.2265+143_2265+144insGACAGTT ENSP00000268124.5:n.2265+143_2265+144insG...
ENST00000442287.6:c.2265+143_2265+144insGACAGTT ENSP00000399851.2:n.2265+143_2265+144insG...
ENST00000526314.2:c.540-359_540-358insGACAGTT
ENST00000526398.1:c.414+143_414+144insGACAGTT
ENST00000528881.2:c.34+143_34+144insGACAGTT
ENST00000530715.5:c.24+143_24+144insGACAGTT ENSP00000431395.1:n.24+143_24+144insGACAG...
ENST00000532584.5:n.467+143_467+144insGACAGTT
ENST00000631044.2:c.*1689+143_*1689+144insGACAGTT ENSP00000486730.1:n.*1689+143_*1689+144in...
NM_001126131.1:c.2265+143_2265+144insGACAGTT NP_001119603.1:n.2265+143_2265+144insGACA...
NM_002693.2:c.2265+143_2265+144insGACAGTT NP_002684.1:n.2265+143_2265+144insGACAGTT...
NM_001126131.2:c.2265+143_2265+144insGACAGTT NP_001119603.1:n.2265+143_2265+144insGACA...
NM_002693.3:c.2265+143_2265+144insGACAGTT MANE Select NP_002684.1:n.2265+143_2265+144insGACAGTT...