Canonical Allele Identifier: CA2575828899
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328761_89328762del , CM000677.2:g.89328761_89328762del GRCh38
NC_000015.9:g.89871992_89871993del , CM000677.1:g.89871992_89871993del GRCh37
NC_000015.8:g.87672996_87672997del NCBI36
NG_008218.1:g.11038_11039del
NG_008218.2:g.11038_11039del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1097_1098del ENSP00000516154.1:p.Gly366AlafsTer21
ENST00000268124.11:c.1097_1098del MANE Select ENSP00000268124.5:p.Gly366AlafsTer21
ENST00000530292.3:c.698_699del ENSP00000432885.2:p.Gly233AlafsTer21
ENST00000635986.2:c.1097_1098del ENSP00000490653.2:p.Gly366AlafsTer21
ENST00000636774.1:c.1097_1098del ENSP00000489799.1:p.Gly366AlafsTer21
ENST00000637264.1:c.169_170del
ENST00000666746.1:c.754_755del
ENST00000672071.1:n.1295_1296del
ENST00000672923.2:n.94_95del
ENST00000268124.9:c.1097_1098del ENSP00000268124.5:p.Gly366AlafsTer21
ENST00000442287.6:c.1097_1098del ENSP00000399851.2:p.Gly366AlafsTer21
ENST00000631044.2:c.*480_*481del ENSP00000486730.1:n.*480_*481del
NM_001126131.1:c.1097_1098del NP_001119603.1:p.Gly366AlafsTer21
NM_002693.2:c.1097_1098del NP_002684.1:p.Gly366AlafsTer21
NM_001126131.2:c.1097_1098del NP_001119603.1:p.Gly366AlafsTer21
NM_002693.3:c.1097_1098del MANE Select NP_002684.1:p.Gly366AlafsTer21