Canonical Allele Identifier: CA2630255570

Gene: POLG

Linked Data

• gnomAD v4: 15-89323419-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323424del , CM000677.2:g.89323424del	GRCh38
NC_000015.9:g.89866655del , CM000677.1:g.89866655del	GRCh37
NC_000015.8:g.87667659del	NCBI36
NG_008218.1:g.16376del
NG_008218.2:g.16376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2249del	ENSP00000516154.1:p.Phe750SerfsTer?
ENST00000268124.11:c.2249del MANE Select	ENSP00000268124.5:p.Phe750SerfsTer?
ENST00000530292.3:c.1850del	ENSP00000432885.2:p.Phe617SerfsTer?
ENST00000635986.2:c.2249del	ENSP00000490653.2:p.Phe750SerfsTer?
ENST00000636774.1:c.*816del	ENSP00000489799.1:n.*816del
ENST00000637238.1:c.946del	ENSP00000490756.1:n.946del
ENST00000637264.1:c.1321del
ENST00000666746.1:c.1826del
ENST00000670281.1:c.569del	ENSP00000499709.1:p.Phe190SerfsTer?
ENST00000672071.1:n.2447del
ENST00000672923.2:n.2352del
ENST00000268124.9:c.2249del	ENSP00000268124.5:p.Phe750SerfsTer?
ENST00000442287.6:c.2249del	ENSP00000399851.2:p.Phe750SerfsTer?
ENST00000526314.2:c.539+395del
ENST00000526398.1:c.398del
ENST00000528881.2:c.18del
ENST00000530715.5:c.8del	ENSP00000431395.1:p.Phe3SerfsTer?
ENST00000532584.5:n.451del
ENST00000631044.2:c.*1673del	ENSP00000486730.1:n.*1673del
NM_001126131.1:c.2249del	NP_001119603.1:p.Phe750SerfsTer?
NM_002693.2:c.2249del	NP_002684.1:p.Phe750SerfsTer?
NM_001126131.2:c.2249del	NP_001119603.1:p.Phe750SerfsTer?
NM_002693.3:c.2249del MANE Select	NP_002684.1:p.Phe750SerfsTer?