Canonical Allele Identifier: CA2630251258

Gene: POLG

Linked Data

• gnomAD v4: 15-89318404-G-GAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318415_89318418dup , CM000677.2:g.89318415_89318418dup	GRCh38
NC_000015.9:g.89861646_89861649dup , CM000677.1:g.89861646_89861649dup	GRCh37
NC_000015.8:g.87662650_87662653dup	NCBI36
NG_008218.1:g.21388_21391dup
NG_011736.1:g.79453_79456dup , LRG_500:g.79453_79456dup
NG_008218.2:g.21388_21391dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+133_3482+136dup	ENSP00000516154.1:n.3482+133_3482+136dup
ENST00000268124.11:c.3482+133_3482+136dup MANE Select	ENSP00000268124.5:n.3482+133_3482+136dup
ENST00000530292.3:c.3083+133_3083+136dup	ENSP00000432885.2:n.3083+133_3083+136dup
ENST00000635986.2:c.*552+133_*552+136dup	ENSP00000490653.2:n.*552+133_*552+136dup
ENST00000636774.1:c.*2049+133_*2049+136dup	ENSP00000489799.1:n.*2049+133_*2049+136dup
ENST00000637238.1:c.2291+133_2291+136dup	ENSP00000490756.1:n.2291+133_2291+136dup
ENST00000637264.1:c.2554+133_2554+136dup
ENST00000666746.1:c.3059+133_3059+136dup
ENST00000672071.1:n.3813_3816dup
ENST00000672695.1:n.792_795dup
ENST00000672923.2:n.3482+133_3482+136dup
ENST00000268124.9:c.3482+133_3482+136dup	ENSP00000268124.5:n.3482+133_3482+136dup
ENST00000442287.6:c.3482+133_3482+136dup	ENSP00000399851.2:n.3482+133_3482+136dup
ENST00000530292.2:c.566+133_566+136dup	ENSP00000432885.1:n.566+133_566+136dup
ENST00000631044.2:c.*2906+133_*2906+136dup	ENSP00000486730.1:n.*2906+133_*2906+136dup
NM_001126131.1:c.3482+133_3482+136dup	NP_001119603.1:n.3482+133_3482+136dup
NM_002693.2:c.3482+133_3482+136dup	NP_002684.1:n.3482+133_3482+136dup
NM_001126131.2:c.3482+133_3482+136dup	NP_001119603.1:n.3482+133_3482+136dup
NM_002693.3:c.3482+133_3482+136dup MANE Select	NP_002684.1:n.3482+133_3482+136dup