Canonical Allele Identifier: CA2805168379
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333630_89333631insAGA , CM000677.2:g.89333630_89333631insAGA GRCh38
NC_000015.9:g.89876861_89876862insAGA , CM000677.1:g.89876861_89876862insAGA GRCh37
NC_000015.8:g.87677865_87677866insAGA NCBI36
NG_008218.1:g.6165_6166insTCT
NG_008218.2:g.6165_6166insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.124_125insTCT (POLG) ENSP00000516154.1:p.Arg42delinsLeuTrp
ENST00000706918.1:c.179_180insTCT (POLGARF) ENSP00000516626.1:p.Ala60_Ala61insLeu
ENST00000268124.11:c.124_125insTCT (POLG) MANE Select ENSP00000268124.5:p.Arg42delinsLeuTrp
ENST00000635986.2:c.124_125insTCT (POLG) ENSP00000490653.2:p.Arg42delinsLeuTrp
ENST00000636774.1:c.124_125insTCT (POLG) ENSP00000489799.1:p.Arg42delinsLeuTrp
ENST00000650303.2:c.179_180insTCT (POLG) ENSP00000497242.2:p.Ala60_Ala61insLeu
ENST00000672071.1:n.322_323insTCT (POLG)
ENST00000268124.9:c.124_125insTCT (POLG) ENSP00000268124.5:p.Arg42delinsLeuTrp
ENST00000442287.6:c.124_125insTCT (POLG) ENSP00000399851.2:p.Arg42delinsLeuTrp
ENST00000631044.2:c.124_125insTCT (POLG) ENSP00000486730.1:p.Arg42delinsLeuTrp
NM_001126131.1:c.124_125insTCT (POLG) NP_001119603.1:p.Arg42delinsLeuTrp
NM_002693.2:c.124_125insTCT (POLG) NP_002684.1:p.Arg42delinsLeuTrp
NM_001126131.2:c.124_125insTCT (POLG) NP_001119603.1:p.Arg42delinsLeuTrp
NM_002693.3:c.124_125insTCT (POLG) MANE Select NP_002684.1:p.Arg42delinsLeuTrp