Canonical Allele Identifier: CA645574964

Gene: POLG

Linked Data

• gnomAD v4: 15-89328990-TG-T
• COSMIC: COSM4613895

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328996del , CM000677.2:g.89328996del	GRCh38
NC_000015.9:g.89872227del , CM000677.1:g.89872227del	GRCh37
NC_000015.8:g.87673231del	NCBI36
NG_008218.1:g.10805del
NG_008218.2:g.10805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.975del	ENSP00000516154.1:p.Thr326GlnfsTer?
ENST00000268124.11:c.975del MANE Select	ENSP00000268124.5:p.Thr326GlnfsTer?
ENST00000530292.3:c.576del	ENSP00000432885.2:p.Thr193GlnfsTer?
ENST00000635986.2:c.975del	ENSP00000490653.2:p.Thr326GlnfsTer?
ENST00000636774.1:c.975del	ENSP00000489799.1:p.Thr326GlnfsTer?
ENST00000637264.1:c.47del
ENST00000666746.1:c.632del
ENST00000672071.1:n.1173del
ENST00000268124.9:c.975del	ENSP00000268124.5:p.Thr326GlnfsTer?
ENST00000442287.6:c.975del	ENSP00000399851.2:p.Thr326GlnfsTer?
ENST00000631044.2:c.*358del	ENSP00000486730.1:n.*358del
NM_001126131.1:c.975del	NP_001119603.1:p.Thr326GlnfsTer?
NM_002693.2:c.975del	NP_002684.1:p.Thr326GlnfsTer?
NM_001126131.2:c.975del	NP_001119603.1:p.Thr326GlnfsTer?
NM_002693.3:c.975del MANE Select	NP_002684.1:p.Thr326GlnfsTer?