Canonical Allele Identifier: CA2805168382
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333636_89333637insACA , CM000677.2:g.89333636_89333637insACA GRCh38
NC_000015.9:g.89876867_89876868insACA , CM000677.1:g.89876867_89876868insACA GRCh37
NC_000015.8:g.87677871_87677872insACA NCBI36
NG_008218.1:g.6159_6160insTGT
NG_008218.2:g.6159_6160insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.118_119insTGT (POLG) ENSP00000516154.1:p.Arg40delinsLeuTrp
ENST00000706918.1:c.173_174insTGT (POLGARF) ENSP00000516626.1:p.Ala58_Ala59insVal
ENST00000268124.11:c.118_119insTGT (POLG) MANE Select ENSP00000268124.5:p.Arg40delinsLeuTrp
ENST00000635986.2:c.118_119insTGT (POLG) ENSP00000490653.2:p.Arg40delinsLeuTrp
ENST00000636774.1:c.118_119insTGT (POLG) ENSP00000489799.1:p.Arg40delinsLeuTrp
ENST00000650303.2:c.173_174insTGT (POLG) ENSP00000497242.2:p.Ala58_Ala59insVal
ENST00000672071.1:n.316_317insTGT (POLG)
ENST00000268124.9:c.118_119insTGT (POLG) ENSP00000268124.5:p.Arg40delinsLeuTrp
ENST00000442287.6:c.118_119insTGT (POLG) ENSP00000399851.2:p.Arg40delinsLeuTrp
ENST00000631044.2:c.118_119insTGT (POLG) ENSP00000486730.1:p.Arg40delinsLeuTrp
NM_001126131.1:c.118_119insTGT (POLG) NP_001119603.1:p.Arg40delinsLeuTrp
NM_002693.2:c.118_119insTGT (POLG) NP_002684.1:p.Arg40delinsLeuTrp
NM_001126131.2:c.118_119insTGT (POLG) NP_001119603.1:p.Arg40delinsLeuTrp
NM_002693.3:c.118_119insTGT (POLG) MANE Select NP_002684.1:p.Arg40delinsLeuTrp