Canonical Allele Identifier: CA2630253888
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327128_89327132del , CM000677.2:g.89327128_89327132del GRCh38
NC_000015.9:g.89870359_89870363del , CM000677.1:g.89870359_89870363del GRCh37
NC_000015.8:g.87671363_87671367del NCBI36
NG_008218.1:g.12664_12668del
NG_008218.2:g.12664_12668del

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.1433+35_1433+39del ENSP00000516154.1:n.1433+35_1433+39del
ENST00000268124.11:c.1433+35_1433+39del MANE Select ENSP00000268124.5:n.1433+35_1433+39del
ENST00000530292.3:c.1034+35_1034+39del ENSP00000432885.2:n.1034+35_1034+39del
ENST00000635986.2:c.1433+35_1433+39del ENSP00000490653.2:n.1433+35_1433+39del
ENST00000636774.1:c.1433+35_1433+39del ENSP00000489799.1:n.1433+35_1433+39del
ENST00000637238.1:c.170+35_170+39del ENSP00000490756.1:n.170+35_170+39del
ENST00000637264.1:c.505+35_505+39del
ENST00000666746.1:c.1010+35_1010+39del
ENST00000672071.1:n.1631+35_1631+39del
ENST00000672923.2:n.1536+35_1536+39del
ENST00000268124.9:c.1433+35_1433+39del ENSP00000268124.5:n.1433+35_1433+39del
ENST00000442287.6:c.1433+35_1433+39del ENSP00000399851.2:n.1433+35_1433+39del
ENST00000532363.2:n.326_330del
ENST00000631044.2:c.*816+35_*816+39del ENSP00000486730.1:n.*816+35_*816+39del
NM_001126131.1:c.1433+35_1433+39del NP_001119603.1:n.1433+35_1433+39del
NM_002693.2:c.1433+35_1433+39del NP_002684.1:n.1433+35_1433+39del
NM_001126131.2:c.1433+35_1433+39del NP_001119603.1:n.1433+35_1433+39del
NM_002693.3:c.1433+35_1433+39del MANE Select NP_002684.1:n.1433+35_1433+39del