Canonical Allele Identifier: CA2575828905
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328883del , CM000677.2:g.89328883del GRCh38
NC_000015.9:g.89872114del , CM000677.1:g.89872114del GRCh37
NC_000015.8:g.87673118del NCBI36
NG_008218.1:g.10913del
NG_008218.2:g.10913del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1024-52del ENSP00000516154.1:n.1024-52del
ENST00000268124.11:c.1024-52del MANE Select ENSP00000268124.5:n.1024-52del
ENST00000530292.3:c.625-52del ENSP00000432885.2:n.625-52del
ENST00000635986.2:c.1024-52del ENSP00000490653.2:n.1024-52del
ENST00000636774.1:c.1024-52del ENSP00000489799.1:n.1024-52del
ENST00000637264.1:c.96-52del
ENST00000666746.1:c.681-52del
ENST00000672071.1:n.1222-52del
ENST00000672923.2:n.21-52del
ENST00000268124.9:c.1024-52del ENSP00000268124.5:n.1024-52del
ENST00000442287.6:c.1024-52del ENSP00000399851.2:n.1024-52del
ENST00000631044.2:c.*407-52del ENSP00000486730.1:n.*407-52del
NM_001126131.1:c.1024-52del NP_001119603.1:n.1024-52del
NM_002693.2:c.1024-52del NP_002684.1:n.1024-52del
NM_001126131.2:c.1024-52del NP_001119603.1:n.1024-52del
NM_002693.3:c.1024-52del MANE Select NP_002684.1:n.1024-52del