Canonical Allele Identifier: CA2630256955

Gene: POLG POLGARF

Linked Data

• gnomAD v4: 15-89333596-T-TGCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333596_89333597insGCTGC , CM000677.2:g.89333596_89333597insGCTGC	GRCh38
NC_000015.9:g.89876827_89876828insGCTGC , CM000677.1:g.89876827_89876828insGCTGC	GRCh37
NC_000015.8:g.87677831_87677832insGCTGC	NCBI36
NG_008218.1:g.6199_6200insGCAGC
NG_008218.2:g.6199_6200insGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.158_159insGCAGC (POLG)	ENSP00000516154.1:p.Gln55HisfsTer?
ENST00000706918.1:c.213_214insGCAGC (POLGARF)	ENSP00000516626.1:p.Thr72AlafsTer?
ENST00000268124.11:c.158_159insGCAGC (POLG) MANE Select	ENSP00000268124.5:p.Gln55HisfsTer?
ENST00000635986.2:c.158_159insGCAGC (POLG)	ENSP00000490653.2:p.Gln55HisfsTer?
ENST00000636774.1:c.158_159insGCAGC (POLG)	ENSP00000489799.1:p.Gln55HisfsTer?
ENST00000650303.2:c.213_214insGCAGC (POLG)	ENSP00000497242.2:p.Thr72AlafsTer?
ENST00000672071.1:n.356_357insGCAGC (POLG)
ENST00000268124.9:c.158_159insGCAGC (POLG)	ENSP00000268124.5:p.Gln55HisfsTer?
ENST00000442287.6:c.158_159insGCAGC (POLG)	ENSP00000399851.2:p.Gln55HisfsTer?
ENST00000631044.2:c.158_159insGCAGC (POLG)	ENSP00000486730.1:p.Gln55HisfsTer?
NM_001126131.1:c.158_159insGCAGC (POLG)	NP_001119603.1:p.Gln55HisfsTer?
NM_002693.2:c.158_159insGCAGC (POLG)	NP_002684.1:p.Gln55HisfsTer?
NM_001126131.2:c.158_159insGCAGC (POLG)	NP_001119603.1:p.Gln55HisfsTer?
NM_002693.3:c.158_159insGCAGC (POLG) MANE Select	NP_002684.1:p.Gln55HisfsTer?