Canonical Allele Identifier: CA2731472374
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

dbSNP Id: rs2141816174

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333624_89333641del , CM000677.2:g.89333624_89333641del GRCh38
NC_000015.9:g.89876855_89876872del , CM000677.1:g.89876855_89876872del GRCh37
NC_000015.8:g.87677859_87677876del NCBI36
NG_008218.1:g.6160_6177del
NG_008218.2:g.6160_6177del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.119_136del (POLG) ENSP00000516154.1:p.Arg40_Gln45del
ENST00000706918.1:c.174_191del (POLGARF) ENSP00000516626.1:p.Ala59_Ala64del
ENST00000268124.11:c.119_136del (POLG) MANE Select ENSP00000268124.5:p.Arg40_Gln45del
ENST00000635986.2:c.119_136del (POLG) ENSP00000490653.2:p.Arg40_Gln45del
ENST00000636774.1:c.119_136del (POLG) ENSP00000489799.1:p.Arg40_Gln45del
ENST00000650303.2:c.174_191del (POLG) ENSP00000497242.2:p.Ala59_Ala64del
ENST00000672071.1:n.317_334del (POLG)
ENST00000268124.9:c.119_136del (POLG) ENSP00000268124.5:p.Arg40_Gln45del
ENST00000442287.6:c.119_136del (POLG) ENSP00000399851.2:p.Arg40_Gln45del
ENST00000631044.2:c.119_136del (POLG) ENSP00000486730.1:p.Arg40_Gln45del
NM_001126131.1:c.119_136del (POLG) NP_001119603.1:p.Arg40_Gln45del
NM_002693.2:c.119_136del (POLG) NP_002684.1:p.Arg40_Gln45del
NM_001126131.2:c.119_136del (POLG) NP_001119603.1:p.Arg40_Gln45del
NM_002693.3:c.119_136del (POLG) MANE Select NP_002684.1:p.Arg40_Gln45del