Canonical Allele Identifier: CA2630256964

Gene: POLG POLGARF

Linked Data

• gnomAD v4: 15-89333606-T-TGCTGCTGCTGCTGCTGCTGCTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333609_89333632dup , CM000677.2:g.89333609_89333632dup	GRCh38
NC_000015.9:g.89876840_89876863dup , CM000677.1:g.89876840_89876863dup	GRCh37
NC_000015.8:g.87677844_87677867dup	NCBI36
NG_008218.1:g.6166_6189dup
NG_008218.2:g.6166_6189dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.125_148dup (POLG)	ENSP00000516154.1:p.Gln49_Gln50insArgGlnG...
ENST00000706918.1:c.180_203dup (POLGARF)	ENSP00000516626.1:p.Ala68_Ala69insAlaAlaA...
ENST00000268124.11:c.125_148dup (POLG) MANE Select	ENSP00000268124.5:p.Gln49_Gln50insArgGlnG...
ENST00000635986.2:c.125_148dup (POLG)	ENSP00000490653.2:p.Gln49_Gln50insArgGlnG...
ENST00000636774.1:c.125_148dup (POLG)	ENSP00000489799.1:p.Gln49_Gln50insArgGlnG...
ENST00000650303.2:c.180_203dup (POLG)	ENSP00000497242.2:p.Ala68_Ala69insAlaAlaA...
ENST00000672071.1:n.323_346dup (POLG)
ENST00000268124.9:c.125_148dup (POLG)	ENSP00000268124.5:p.Gln49_Gln50insArgGlnG...
ENST00000442287.6:c.125_148dup (POLG)	ENSP00000399851.2:p.Gln49_Gln50insArgGlnG...
ENST00000631044.2:c.125_148dup (POLG)	ENSP00000486730.1:p.Gln49_Gln50insArgGlnG...
NM_001126131.1:c.125_148dup (POLG)	NP_001119603.1:p.Gln49_Gln50insArgGlnGlnG...
NM_002693.2:c.125_148dup (POLG)	NP_002684.1:p.Gln49_Gln50insArgGlnGlnGlnG...
NM_001126131.2:c.125_148dup (POLG)	NP_001119603.1:p.Gln49_Gln50insArgGlnGlnG...
NM_002693.3:c.125_148dup (POLG) MANE Select	NP_002684.1:p.Gln49_Gln50insArgGlnGlnGlnG...