Canonical Allele Identifier: CA2630256927

Gene: POLG POLGARF

Linked Data

• gnomAD v4: 15-89333207-T-TCCCCCTCGGGGCCGTACCGGGTCCAGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333208_89333236dup , CM000677.2:g.89333208_89333236dup	GRCh38
NC_000015.9:g.89876439_89876467dup , CM000677.1:g.89876439_89876467dup	GRCh37
NC_000015.8:g.87677443_87677471dup	NCBI36
NG_008218.1:g.6560_6588dup
NG_008218.2:g.6560_6588dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.519_547dup (POLG)	ENSP00000516154.1:p.Glu183GlyfsTer?
ENST00000706918.1:c.574_602dup (POLGARF)	ENSP00000516626.1:p.Arg203TrpfsTer?
ENST00000268124.11:c.519_547dup (POLG) MANE Select	ENSP00000268124.5:p.Glu183GlyfsTer?
ENST00000530292.3:c.120_148dup (POLG)	ENSP00000432885.2:p.Glu50GlyfsTer?
ENST00000635986.2:c.519_547dup (POLG)	ENSP00000490653.2:p.Glu183GlyfsTer?
ENST00000636774.1:c.519_547dup (POLG)	ENSP00000489799.1:p.Glu183GlyfsTer?
ENST00000650303.2:c.574_602dup (POLG)	ENSP00000497242.2:p.Arg203TrpfsTer?
ENST00000666746.1:c.176_204dup (POLG)
ENST00000672071.1:n.717_745dup (POLG)
ENST00000268124.9:c.519_547dup (POLG)	ENSP00000268124.5:p.Glu183GlyfsTer?
ENST00000442287.6:c.519_547dup (POLG)	ENSP00000399851.2:p.Glu183GlyfsTer?
ENST00000631044.2:c.519_547dup (POLG)	ENSP00000486730.1:p.Glu183GlyfsTer?
NM_001126131.1:c.519_547dup (POLG)	NP_001119603.1:p.Glu183GlyfsTer?
NM_002693.2:c.519_547dup (POLG)	NP_002684.1:p.Glu183GlyfsTer?
NM_001126131.2:c.519_547dup (POLG)	NP_001119603.1:p.Glu183GlyfsTer?
NM_002693.3:c.519_547dup (POLG) MANE Select	NP_002684.1:p.Glu183GlyfsTer?