Canonical Allele Identifier: CA2630255446
Gene: POLG HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323328_89323329del , CM000677.2:g.89323328_89323329del GRCh38
NC_000015.9:g.89866559_89866560del , CM000677.1:g.89866559_89866560del GRCh37
NC_000015.8:g.87667563_87667564del NCBI36
NG_008218.1:g.16471_16472del
NG_008218.2:g.16471_16472del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2265+79_2265+80del ENSP00000516154.1:n.2265+79_2265+80del
ENST00000268124.11:c.2265+79_2265+80del MANE Select ENSP00000268124.5:n.2265+79_2265+80del
ENST00000530292.3:c.1866+79_1866+80del ENSP00000432885.2:n.1866+79_1866+80del
ENST00000635986.2:c.2265+79_2265+80del ENSP00000490653.2:n.2265+79_2265+80del
ENST00000636774.1:c.*832+79_*832+80del ENSP00000489799.1:n.*832+79_*832+80del
ENST00000637238.1:c.962+79_962+80del ENSP00000490756.1:n.962+79_962+80del
ENST00000637264.1:c.1337+79_1337+80del
ENST00000666746.1:c.1842+79_1842+80del
ENST00000670281.1:c.585+79_585+80del ENSP00000499709.1:n.585+79_585+80del
ENST00000672071.1:n.2463+79_2463+80del
ENST00000672923.2:n.2368+79_2368+80del
ENST00000268124.9:c.2265+79_2265+80del ENSP00000268124.5:n.2265+79_2265+80del
ENST00000442287.6:c.2265+79_2265+80del ENSP00000399851.2:n.2265+79_2265+80del
ENST00000526314.2:c.540-423_540-422del
ENST00000526398.1:c.414+79_414+80del
ENST00000528881.2:c.34+79_34+80del
ENST00000530715.5:c.24+79_24+80del ENSP00000431395.1:n.24+79_24+80del
ENST00000532584.5:n.467+79_467+80del
ENST00000631044.2:c.*1689+79_*1689+80del ENSP00000486730.1:n.*1689+79_*1689+80del
NM_001126131.1:c.2265+79_2265+80del NP_001119603.1:n.2265+79_2265+80del
NM_002693.2:c.2265+79_2265+80del NP_002684.1:n.2265+79_2265+80del
NM_001126131.2:c.2265+79_2265+80del NP_001119603.1:n.2265+79_2265+80del
NM_002693.3:c.2265+79_2265+80del MANE Select NP_002684.1:n.2265+79_2265+80del