Canonical Allele Identifier: CA2630251273

Gene: POLG

Linked Data

• gnomAD v4: 15-89318421-T-TGAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318422_89318426dup , CM000677.2:g.89318422_89318426dup	GRCh38
NC_000015.9:g.89861653_89861657dup , CM000677.1:g.89861653_89861657dup	GRCh37
NC_000015.8:g.87662657_87662661dup	NCBI36
NG_008218.1:g.21370_21374dup
NG_011736.1:g.79460_79464dup , LRG_500:g.79460_79464dup
NG_008218.2:g.21370_21374dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+115_3482+119dup	ENSP00000516154.1:n.3482+115_3482+119dup
ENST00000268124.11:c.3482+115_3482+119dup MANE Select	ENSP00000268124.5:n.3482+115_3482+119dup
ENST00000530292.3:c.3083+115_3083+119dup	ENSP00000432885.2:n.3083+115_3083+119dup
ENST00000635986.2:c.*552+115_*552+119dup	ENSP00000490653.2:n.*552+115_*552+119dup
ENST00000636774.1:c.*2049+115_*2049+119dup	ENSP00000489799.1:n.*2049+115_*2049+119dup
ENST00000637238.1:c.2291+115_2291+119dup	ENSP00000490756.1:n.2291+115_2291+119dup
ENST00000637264.1:c.2554+115_2554+119dup
ENST00000666746.1:c.3059+115_3059+119dup
ENST00000672071.1:n.3795_3799dup
ENST00000672695.1:n.774_778dup
ENST00000672923.2:n.3482+115_3482+119dup
ENST00000268124.9:c.3482+115_3482+119dup	ENSP00000268124.5:n.3482+115_3482+119dup
ENST00000442287.6:c.3482+115_3482+119dup	ENSP00000399851.2:n.3482+115_3482+119dup
ENST00000530292.2:c.566+115_566+119dup	ENSP00000432885.1:n.566+115_566+119dup
ENST00000631044.2:c.*2906+115_*2906+119dup	ENSP00000486730.1:n.*2906+115_*2906+119dup
NM_001126131.1:c.3482+115_3482+119dup	NP_001119603.1:n.3482+115_3482+119dup
NM_002693.2:c.3482+115_3482+119dup	NP_002684.1:n.3482+115_3482+119dup
NM_001126131.2:c.3482+115_3482+119dup	NP_001119603.1:n.3482+115_3482+119dup
NM_002693.3:c.3482+115_3482+119dup MANE Select	NP_002684.1:n.3482+115_3482+119dup