Canonical Allele Identifier: CA2194555927

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323605_89323621delinsTCGTCATCAGCTGGGAA , CM000677.2:g.89323605_89323621delinsTCGTCATCAGCTGGGAA	GRCh38
NC_000015.9:g.89866836_89866852delinsTCGTCATCAGCTGGGAA , CM000677.1:g.89866836_89866852delinsTCGTCATCAGCTGGGAA	GRCh37
NC_000015.8:g.87667840_87667856delinsTCGTCATCAGCTGGGAA	NCBI36
NG_008218.1:g.16175_16191delinsTTCCCAGCTGATGACGA
NG_008218.2:g.16175_16191delinsTTCCCAGCTGATGACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2158-110_2158-94delinsTTCCCAGCTGATGACGA	ENSP00000516154.1:n.2158-110_2158-94delinsTTCCCAGCTGATGACGA
ENST00000268124.11:c.2158-110_2158-94delinsTTCCCAGCTGATGACGA MANE Select	ENSP00000268124.5:n.2158-110_2158-94delinsTTCCCAGCTGATGACGA
ENST00000530292.3:c.1759-110_1759-94delinsTTCCCAGCTGATGACGA	ENSP00000432885.2:n.1759-110_1759-94delinsTTCCCAGCTGATGACGA
ENST00000635986.2:c.2158-110_2158-94delinsTTCCCAGCTGATGACGA	ENSP00000490653.2:n.2158-110_2158-94delinsTTCCCAGCTGATGACGA
ENST00000636774.1:c.*725-110_*725-94delinsTTCCCAGCTGATGACGA	ENSP00000489799.1:n.*725-110_*725-94delinsTTCCCAGCTGATGACGA
ENST00000637238.1:c.855-110_855-94delinsTTCCCAGCTGATGACGA	ENSP00000490756.1:n.855-110_855-94delinsTTCCCAGCTGATGACGA
ENST00000637264.1:c.1230-110_1230-94delinsTTCCCAGCTGATGACGA
ENST00000666746.1:c.1735-110_1735-94delinsTTCCCAGCTGATGACGA
ENST00000670281.1:c.478-110_478-94delinsTTCCCAGCTGATGACGA	ENSP00000499709.1:n.478-110_478-94delinsTTCCCAGCTGATGACGA
ENST00000672071.1:n.2356-110_2356-94delinsTTCCCAGCTGATGACGA
ENST00000672923.2:n.2261-110_2261-94delinsTTCCCAGCTGATGACGA
ENST00000268124.9:c.2158-110_2158-94delinsTTCCCAGCTGATGACGA	ENSP00000268124.5:n.2158-110_2158-94delinsTTCCCAGCTGATGACGA
ENST00000442287.6:c.2158-110_2158-94delinsTTCCCAGCTGATGACGA	ENSP00000399851.2:n.2158-110_2158-94delinsTTCCCAGCTGATGACGA
ENST00000526314.2:c.539+194_539+210delinsTTCCCAGCTGATGACGA
ENST00000526398.1:c.307-110_307-94delinsTTCCCAGCTGATGACGA
ENST00000526573.1:n.437_453delinsTTCCCAGCTGATGACGA
ENST00000532584.5:n.360-110_360-94delinsTTCCCAGCTGATGACGA
ENST00000533857.1:n.466_482delinsTTCCCAGCTGATGACGA
ENST00000631044.2:c.*1541-69_*1541-53delinsTTCCCAGCTGATGACGA	ENSP00000486730.1:n.*1541-69_*1541-53delinsTTCCCAGCTGATGACGA
NM_001126131.1:c.2158-110_2158-94delinsTTCCCAGCTGATGACGA	NP_001119603.1:n.2158-110_2158-94delinsTTCCCAGCTGATGACGA
NM_002693.2:c.2158-110_2158-94delinsTTCCCAGCTGATGACGA	NP_002684.1:n.2158-110_2158-94delinsTTCCCAGCTGATGACGA
NM_001126131.2:c.2158-110_2158-94delinsTTCCCAGCTGATGACGA	NP_001119603.1:n.2158-110_2158-94delinsTTCCCAGCTGATGACGA
NM_002693.3:c.2158-110_2158-94delinsTTCCCAGCTGATGACGA MANE Select	NP_002684.1:n.2158-110_2158-94delinsTTCCCAGCTGATGACGA