Canonical Allele Identifier: CA2630254009

Gene: POLG

Linked Data

• gnomAD v4: 15-89321090-G-GGGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321097_89321101dup , CM000677.2:g.89321097_89321101dup	GRCh38
NC_000015.9:g.89864328_89864332dup , CM000677.1:g.89864328_89864332dup	GRCh37
NC_000015.8:g.87665332_87665336dup	NCBI36
NG_008218.1:g.18701_18705dup
NG_008218.2:g.18701_18705dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2734+30_2734+34dup	ENSP00000516154.1:n.2734+30_2734+34dup
ENST00000268124.11:c.2734+30_2734+34dup MANE Select	ENSP00000268124.5:n.2734+30_2734+34dup
ENST00000530292.3:c.2335+30_2335+34dup	ENSP00000432885.2:n.2335+30_2335+34dup
ENST00000635986.2:c.2734+30_2734+34dup	ENSP00000490653.2:n.2734+30_2734+34dup
ENST00000636774.1:c.*1301+30_*1301+34dup	ENSP00000489799.1:n.*1301+30_*1301+34dup
ENST00000637238.1:c.1461_1465dup	ENSP00000490756.1:n.1461_1465dup
ENST00000637264.1:c.1806+30_1806+34dup
ENST00000666746.1:c.2311+30_2311+34dup
ENST00000670281.1:c.800+867_800+871dup	ENSP00000499709.1:n.800+867_800+871dup
ENST00000672071.1:n.2932+30_2932+34dup
ENST00000672923.2:n.2676+30_2676+34dup
ENST00000268124.9:c.2734+30_2734+34dup	ENSP00000268124.5:n.2734+30_2734+34dup
ENST00000442287.6:c.2734+30_2734+34dup	ENSP00000399851.2:n.2734+30_2734+34dup
ENST00000528881.2:c.331+30_331+34dup
ENST00000530715.5:c.186-226_186-222dup	ENSP00000431395.1:n.186-226_186-222dup
ENST00000631044.2:c.*2158+30_*2158+34dup	ENSP00000486730.1:n.*2158+30_*2158+34dup
NM_001126131.1:c.2734+30_2734+34dup	NP_001119603.1:n.2734+30_2734+34dup
NM_002693.2:c.2734+30_2734+34dup	NP_002684.1:n.2734+30_2734+34dup
NM_001126131.2:c.2734+30_2734+34dup	NP_001119603.1:n.2734+30_2734+34dup
NM_002693.3:c.2734+30_2734+34dup MANE Select	NP_002684.1:n.2734+30_2734+34dup