Canonical Allele Identifier: CA2805167628
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318730_89318731del , CM000677.2:g.89318730_89318731del GRCh38
NC_000015.9:g.89861961_89861962del , CM000677.1:g.89861961_89861962del GRCh37
NC_000015.8:g.87662965_87662966del NCBI36
NG_008218.1:g.21065_21066del
NG_011736.1:g.79768_79769del , LRG_500:g.79768_79769del
NG_008218.2:g.21065_21066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3292_3293del ENSP00000516154.1:p.Asn1098LeufsTer9
ENST00000268124.11:c.3292_3293del MANE Select ENSP00000268124.5:p.Asn1098LeufsTer9
ENST00000530292.3:c.2893_2894del ENSP00000432885.2:p.Asn965LeufsTer9
ENST00000635986.2:c.*362_*363del ENSP00000490653.2:n.*362_*363del
ENST00000636774.1:c.*1859_*1860del ENSP00000489799.1:n.*1859_*1860del
ENST00000637238.1:c.2101_2102del ENSP00000490756.1:n.2101_2102del
ENST00000637264.1:c.2364_2365del
ENST00000666746.1:c.2869_2870del
ENST00000672071.1:n.3490_3491del
ENST00000672695.1:n.469_470del
ENST00000672923.2:n.3292_3293del
ENST00000268124.9:c.3292_3293del ENSP00000268124.5:p.Asn1098LeufsTer9
ENST00000442287.6:c.3292_3293del ENSP00000399851.2:p.Asn1098LeufsTer9
ENST00000530292.2:c.376_377del ENSP00000432885.1:p.Asn126LeufsTer9
ENST00000631044.2:c.*2716_*2717del ENSP00000486730.1:n.*2716_*2717del
NM_001126131.1:c.3292_3293del NP_001119603.1:p.Asn1098LeufsTer9
NM_002693.2:c.3292_3293del NP_002684.1:p.Asn1098LeufsTer9
NM_001126131.2:c.3292_3293del NP_001119603.1:p.Asn1098LeufsTer9
NM_002693.3:c.3292_3293del MANE Select NP_002684.1:p.Asn1098LeufsTer9