Canonical Allele Identifier: CA2695221129
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333760del , CM000677.2:g.89333760del GRCh38
NC_000015.9:g.89876991del , CM000677.1:g.89876991del GRCh37
NC_000015.8:g.87677995del NCBI36
NG_008218.1:g.6037del
NG_008218.2:g.6037del

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.-5del (POLG) ENSP00000516154.1:n.-5del
ENST00000706918.1:c.51del (POLGARF) ENSP00000516626.1:p.Asn18ThrfsTer?
ENST00000268124.11:c.-5del (POLG) MANE Select ENSP00000268124.5:n.-5del
ENST00000635986.2:c.-5del (POLG) ENSP00000490653.2:n.-5del
ENST00000636774.1:c.-5del (POLG) ENSP00000489799.1:n.-5del
ENST00000650303.2:c.51del (POLG) ENSP00000497242.2:p.Asn18ThrfsTer?
ENST00000672071.1:n.194del (POLG)
ENST00000268124.9:c.-5del (POLG) ENSP00000268124.5:n.-5del
ENST00000442287.6:c.-5del (POLG) ENSP00000399851.2:n.-5del
ENST00000631044.2:c.-5del (POLG) ENSP00000486730.1:n.-5del
NM_001126131.1:c.-5del (POLG) NP_001119603.1:n.-5del
NM_002693.2:c.-5del (POLG) NP_002684.1:n.-5del
NM_001126131.2:c.-5del (POLG) NP_001119603.1:n.-5del
NM_002693.3:c.-5del (POLG) MANE Select NP_002684.1:n.-5del