Canonical Allele Identifier: CA716886924
Gene: POLG HGNC NCBI

Linked Data

dbSNP Id: rs1336144550

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323254_89323255del , CM000677.2:g.89323254_89323255del GRCh38
NC_000015.9:g.89866485_89866486del , CM000677.1:g.89866485_89866486del GRCh37
NC_000015.8:g.87667489_87667490del NCBI36
NG_008218.1:g.16545_16546del
NG_008218.2:g.16545_16546del

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2265+153_2265+154del ENSP00000516154.1:n.2265+153_2265+154del
ENST00000268124.11:c.2265+153_2265+154del MANE Select ENSP00000268124.5:n.2265+153_2265+154del
ENST00000530292.3:c.1866+153_1866+154del ENSP00000432885.2:n.1866+153_1866+154del
ENST00000635986.2:c.2265+153_2265+154del ENSP00000490653.2:n.2265+153_2265+154del
ENST00000636774.1:c.*832+153_*832+154del ENSP00000489799.1:n.*832+153_*832+154del
ENST00000637238.1:c.962+153_962+154del ENSP00000490756.1:n.962+153_962+154del
ENST00000637264.1:c.1337+153_1337+154del
ENST00000666746.1:c.1842+153_1842+154del
ENST00000670281.1:c.585+153_585+154del ENSP00000499709.1:n.585+153_585+154del
ENST00000672071.1:n.2463+153_2463+154del
ENST00000672923.2:n.2368+153_2368+154del
ENST00000268124.9:c.2265+153_2265+154del ENSP00000268124.5:n.2265+153_2265+154del
ENST00000442287.6:c.2265+153_2265+154del ENSP00000399851.2:n.2265+153_2265+154del
ENST00000526314.2:c.540-349_540-348del
ENST00000526398.1:c.414+153_414+154del
ENST00000528881.2:c.34+153_34+154del
ENST00000530715.5:c.24+153_24+154del ENSP00000431395.1:n.24+153_24+154del
ENST00000532584.5:n.467+153_467+154del
ENST00000631044.2:c.*1689+153_*1689+154del ENSP00000486730.1:n.*1689+153_*1689+154de...
NM_001126131.1:c.2265+153_2265+154del NP_001119603.1:n.2265+153_2265+154del
NM_002693.2:c.2265+153_2265+154del NP_002684.1:n.2265+153_2265+154del
NM_001126131.2:c.2265+153_2265+154del NP_001119603.1:n.2265+153_2265+154del
NM_002693.3:c.2265+153_2265+154del MANE Select NP_002684.1:n.2265+153_2265+154del