Canonical Allele Identifier: CA2630252246

Gene: POLG

Linked Data

• gnomAD v4: 15-89325520-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325523del , CM000677.2:g.89325523del	GRCh38
NC_000015.9:g.89868754del , CM000677.1:g.89868754del	GRCh37
NC_000015.8:g.87669758del	NCBI36
NG_008218.1:g.14275del
NG_008218.2:g.14275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1878del	ENSP00000516154.1:p.Arg627GlyfsTer?
ENST00000268124.11:c.1878del MANE Select	ENSP00000268124.5:p.Arg627GlyfsTer?
ENST00000530292.3:c.1479del	ENSP00000432885.2:p.Arg494GlyfsTer?
ENST00000635986.2:c.1878del	ENSP00000490653.2:p.Arg627GlyfsTer?
ENST00000636774.1:c.*445del	ENSP00000489799.1:n.*445del
ENST00000637238.1:c.615del	ENSP00000490756.1:p.Arg206GlyfsTer?
ENST00000637264.1:c.950del
ENST00000666746.1:c.1455del
ENST00000670281.1:c.198del	ENSP00000499709.1:p.Arg67GlyfsTer?
ENST00000672071.1:n.2076del
ENST00000672923.2:n.1981del
ENST00000268124.9:c.1878del	ENSP00000268124.5:p.Arg627GlyfsTer?
ENST00000442287.6:c.1878del	ENSP00000399851.2:p.Arg627GlyfsTer?
ENST00000526314.2:c.260del
ENST00000526398.1:c.67del
ENST00000532584.5:n.80del
ENST00000631044.2:c.*1261del	ENSP00000486730.1:n.*1261del
NM_001126131.1:c.1878del	NP_001119603.1:p.Arg627GlyfsTer?
NM_002693.2:c.1878del	NP_002684.1:p.Arg627GlyfsTer?
NM_001126131.2:c.1878del	NP_001119603.1:p.Arg627GlyfsTer?
NM_002693.3:c.1878del MANE Select	NP_002684.1:p.Arg627GlyfsTer?