Canonical Allele Identifier: CA2805168213
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329926_89329940del , CM000677.2:g.89329926_89329940del GRCh38
NC_000015.9:g.89873157_89873171del , CM000677.1:g.89873157_89873171del GRCh37
NC_000015.8:g.87674161_87674175del NCBI36
NG_008218.1:g.9864_9878del
NG_008218.2:g.9864_9878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.855+149_855+163del ENSP00000516154.1:n.855+149_855+163del
ENST00000268124.11:c.855+149_855+163del MANE Select ENSP00000268124.5:n.855+149_855+163del
ENST00000530292.3:c.456+149_456+163del ENSP00000432885.2:n.456+149_456+163del
ENST00000635986.2:c.855+149_855+163del ENSP00000490653.2:n.855+149_855+163del
ENST00000636774.1:c.855+149_855+163del ENSP00000489799.1:n.855+149_855+163del
ENST00000666746.1:c.512+149_512+163del
ENST00000672071.1:n.1053+149_1053+163del
ENST00000268124.9:c.855+149_855+163del ENSP00000268124.5:n.855+149_855+163del
ENST00000442287.6:c.855+149_855+163del ENSP00000399851.2:n.855+149_855+163del
ENST00000631044.2:c.*238+149_*238+163del ENSP00000486730.1:n.*238+149_*238+163del
NM_001126131.1:c.855+149_855+163del NP_001119603.1:n.855+149_855+163del
NM_002693.2:c.855+149_855+163del NP_002684.1:n.855+149_855+163del
NM_001126131.2:c.855+149_855+163del NP_001119603.1:n.855+149_855+163del
NM_002693.3:c.855+149_855+163del MANE Select NP_002684.1:n.855+149_855+163del