Canonical Allele Identifier: CA2630252053

Gene: POLG

Linked Data

• gnomAD v4: 15-89318695-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318696dup , CM000677.2:g.89318696dup	GRCh38
NC_000015.9:g.89861927dup , CM000677.1:g.89861927dup	GRCh37
NC_000015.8:g.87662931dup	NCBI36
NG_008218.1:g.21100dup
NG_011736.1:g.79734dup , LRG_500:g.79734dup
NG_008218.2:g.21100dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3327dup	ENSP00000516154.1:p.His1110ThrfsTer12
ENST00000268124.11:c.3327dup MANE Select	ENSP00000268124.5:p.His1110ThrfsTer12
ENST00000530292.3:c.2928dup	ENSP00000432885.2:p.His977ThrfsTer12
ENST00000635986.2:c.*397dup	ENSP00000490653.2:n.*397dup
ENST00000636774.1:c.*1894dup	ENSP00000489799.1:n.*1894dup
ENST00000637238.1:c.2136dup	ENSP00000490756.1:n.2136dup
ENST00000637264.1:c.2399dup
ENST00000666746.1:c.2904dup
ENST00000672071.1:n.3525dup
ENST00000672695.1:n.504dup
ENST00000672923.2:n.3327dup
ENST00000268124.9:c.3327dup	ENSP00000268124.5:p.His1110ThrfsTer12
ENST00000442287.6:c.3327dup	ENSP00000399851.2:p.His1110ThrfsTer12
ENST00000530292.2:c.411dup	ENSP00000432885.1:p.His138ThrfsTer12
ENST00000631044.2:c.*2751dup	ENSP00000486730.1:n.*2751dup
NM_001126131.1:c.3327dup	NP_001119603.1:p.His1110ThrfsTer12
NM_002693.2:c.3327dup	NP_002684.1:p.His1110ThrfsTer12
NM_001126131.2:c.3327dup	NP_001119603.1:p.His1110ThrfsTer12
NM_002693.3:c.3327dup MANE Select	NP_002684.1:p.His1110ThrfsTer12