Canonical Allele Identifier: CA2695197354

Gene: POLG

Linked Data

• ClinVar Variation Id: 2677962
• ClinVar RCV Id: RCV003471719

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330142_89330143del , CM000677.2:g.89330142_89330143del	GRCh38
NC_000015.9:g.89873373_89873374del , CM000677.1:g.89873373_89873374del	GRCh37
NC_000015.8:g.87674377_87674378del	NCBI36
NG_008218.1:g.9653_9654del
NG_008218.2:g.9653_9654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.793_794del	ENSP00000516154.1:p.Leu265SerfsTer9
ENST00000268124.11:c.793_794del MANE Select	ENSP00000268124.5:p.Leu265SerfsTer9
ENST00000530292.3:c.394_395del	ENSP00000432885.2:p.Leu132SerfsTer9
ENST00000635986.2:c.793_794del	ENSP00000490653.2:p.Leu265SerfsTer9
ENST00000636774.1:c.793_794del	ENSP00000489799.1:p.Leu265SerfsTer9
ENST00000666746.1:c.450_451del
ENST00000672071.1:n.991_992del
ENST00000268124.9:c.793_794del	ENSP00000268124.5:p.Leu265SerfsTer9
ENST00000442287.6:c.793_794del	ENSP00000399851.2:p.Leu265SerfsTer9
ENST00000631044.2:c.*176_*177del	ENSP00000486730.1:n.*176_*177del
NM_001126131.1:c.793_794del	NP_001119603.1:p.Leu265SerfsTer9
NM_002693.2:c.793_794del	NP_002684.1:p.Leu265SerfsTer9
NM_001126131.2:c.793_794del	NP_001119603.1:p.Leu265SerfsTer9
NM_002693.3:c.793_794del MANE Select	NP_002684.1:p.Leu265SerfsTer9