Canonical Allele Identifier: CA716910490

Gene: POLG

Linked Data

• ClinVar Variation Id: 1922614
• ClinVar RCV Id: RCV002617624
• dbSNP Id: rs1406911104
• MyVariant Identifiers: chr15:g.89868839_89868841del (hg19) ; chr15:g.89325608_89325610del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325609_89325611del , CM000677.2:g.89325609_89325611del	GRCh38
NC_000015.9:g.89868840_89868842del , CM000677.1:g.89868840_89868842del	GRCh37
NC_000015.8:g.87669844_87669846del	NCBI36
NG_008218.1:g.14186_14188del
NG_008218.2:g.14186_14188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1789_1791del	ENSP00000516154.1:p.Arg597del
ENST00000268124.11:c.1789_1791del MANE Select	ENSP00000268124.5:p.Arg597del
ENST00000530292.3:c.1390_1392del	ENSP00000432885.2:p.Arg464del
ENST00000635986.2:c.1789_1791del	ENSP00000490653.2:p.Arg597del
ENST00000636774.1:c.*356_*358del	ENSP00000489799.1:n.*356_*358del
ENST00000637238.1:c.526_528del	ENSP00000490756.1:p.Arg176del
ENST00000637264.1:c.861_863del
ENST00000666746.1:c.1366_1368del
ENST00000670281.1:c.109_111del	ENSP00000499709.1:p.Arg37del
ENST00000672071.1:n.1987_1989del
ENST00000672923.2:n.1892_1894del
ENST00000268124.9:c.1789_1791del	ENSP00000268124.5:p.Arg597del
ENST00000442287.6:c.1789_1791del	ENSP00000399851.2:p.Arg597del
ENST00000526314.2:c.171_173del
ENST00000631044.2:c.*1172_*1174del	ENSP00000486730.1:n.*1172_*1174del
NM_001126131.1:c.1789_1791del	NP_001119603.1:p.Arg597del
NM_002693.2:c.1789_1791del	NP_002684.1:p.Arg597del
NM_001126131.2:c.1789_1791del	NP_001119603.1:p.Arg597del
NM_002693.3:c.1789_1791del MANE Select	NP_002684.1:p.Arg597del