Canonical Allele Identifier: CA2575828579

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318468_89318469insA , CM000677.2:g.89318468_89318469insA	GRCh38
NC_000015.9:g.89861699_89861700insA , CM000677.1:g.89861699_89861700insA	GRCh37
NC_000015.8:g.87662703_87662704insA	NCBI36
NG_008218.1:g.21327_21328insT
NG_011736.1:g.79506_79507insA , LRG_500:g.79506_79507insA
NG_008218.2:g.21327_21328insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+72_3482+73insT	ENSP00000516154.1:n.3482+72_3482+73insT
ENST00000268124.11:c.3482+72_3482+73insT MANE Select	ENSP00000268124.5:n.3482+72_3482+73insT
ENST00000530292.3:c.3083+72_3083+73insT	ENSP00000432885.2:n.3083+72_3083+73insT
ENST00000635986.2:c.*552+72_*552+73insT	ENSP00000490653.2:n.*552+72_*552+73insT
ENST00000636774.1:c.*2049+72_*2049+73insT	ENSP00000489799.1:n.*2049+72_*2049+73insT
ENST00000637238.1:c.2291+72_2291+73insT	ENSP00000490756.1:n.2291+72_2291+73insT
ENST00000637264.1:c.2554+72_2554+73insT
ENST00000666746.1:c.3059+72_3059+73insT
ENST00000672071.1:n.3752_3753insT
ENST00000672695.1:n.731_732insT
ENST00000672923.2:n.3482+72_3482+73insT
ENST00000268124.9:c.3482+72_3482+73insT	ENSP00000268124.5:n.3482+72_3482+73insT
ENST00000442287.6:c.3482+72_3482+73insT	ENSP00000399851.2:n.3482+72_3482+73insT
ENST00000530292.2:c.566+72_566+73insT	ENSP00000432885.1:n.566+72_566+73insT
ENST00000631044.2:c.*2906+72_*2906+73insT	ENSP00000486730.1:n.*2906+72_*2906+73insT
NM_001126131.1:c.3482+72_3482+73insT	NP_001119603.1:n.3482+72_3482+73insT
NM_002693.2:c.3482+72_3482+73insT	NP_002684.1:n.3482+72_3482+73insT
NM_001126131.2:c.3482+72_3482+73insT	NP_001119603.1:n.3482+72_3482+73insT
NM_002693.3:c.3482+72_3482+73insT MANE Select	NP_002684.1:n.3482+72_3482+73insT