Canonical Allele Identifier: CA2194554800
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323275_89323277delinsTCA , CM000677.2:g.89323275_89323277delinsTCA GRCh38
NC_000015.9:g.89866506_89866508delinsTCA , CM000677.1:g.89866506_89866508delinsTCA GRCh37
NC_000015.8:g.87667510_87667512delinsTCA NCBI36
NG_008218.1:g.16519_16521delinsTGA
NG_008218.2:g.16519_16521delinsTGA

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2265+127_2265+129delinsTGA ENSP00000516154.1:n.2265+127_2265+129deli...
ENST00000268124.11:c.2265+127_2265+129delinsTGA MANE Select ENSP00000268124.5:n.2265+127_2265+129deli...
ENST00000530292.3:c.1866+127_1866+129delinsTGA ENSP00000432885.2:n.1866+127_1866+129deli...
ENST00000635986.2:c.2265+127_2265+129delinsTGA ENSP00000490653.2:n.2265+127_2265+129deli...
ENST00000636774.1:c.*832+127_*832+129delinsTGA ENSP00000489799.1:n.*832+127_*832+129deli...
ENST00000637238.1:c.962+127_962+129delinsTGA ENSP00000490756.1:n.962+127_962+129delins...
ENST00000637264.1:c.1337+127_1337+129delinsTGA
ENST00000666746.1:c.1842+127_1842+129delinsTGA
ENST00000670281.1:c.585+127_585+129delinsTGA ENSP00000499709.1:n.585+127_585+129delins...
ENST00000672071.1:n.2463+127_2463+129delinsTGA
ENST00000672923.2:n.2368+127_2368+129delinsTGA
ENST00000268124.9:c.2265+127_2265+129delinsTGA ENSP00000268124.5:n.2265+127_2265+129deli...
ENST00000442287.6:c.2265+127_2265+129delinsTGA ENSP00000399851.2:n.2265+127_2265+129deli...
ENST00000526314.2:c.540-375_540-373delinsTGA
ENST00000526398.1:c.414+127_414+129delinsTGA
ENST00000528881.2:c.34+127_34+129delinsTGA
ENST00000530715.5:c.24+127_24+129delinsTGA ENSP00000431395.1:n.24+127_24+129delinsTG...
ENST00000532584.5:n.467+127_467+129delinsTGA
ENST00000631044.2:c.*1689+127_*1689+129delinsTGA ENSP00000486730.1:n.*1689+127_*1689+129de...
NM_001126131.1:c.2265+127_2265+129delinsTGA NP_001119603.1:n.2265+127_2265+129delinsT...
NM_002693.2:c.2265+127_2265+129delinsTGA NP_002684.1:n.2265+127_2265+129delinsTGA
NM_001126131.2:c.2265+127_2265+129delinsTGA NP_001119603.1:n.2265+127_2265+129delinsT...
NM_002693.3:c.2265+127_2265+129delinsTGA MANE Select NP_002684.1:n.2265+127_2265+129delinsTGA