Canonical Allele Identifier: CA2630256670

Gene: POLG

Linked Data

• gnomAD v4: 15-89328767-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328769_89328770dup , CM000677.2:g.89328769_89328770dup	GRCh38
NC_000015.9:g.89872000_89872001dup , CM000677.1:g.89872000_89872001dup	GRCh37
NC_000015.8:g.87673004_87673005dup	NCBI36
NG_008218.1:g.11027_11028dup
NG_008218.2:g.11027_11028dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1086_1087dup	ENSP00000516154.1:p.Tyr363PhefsTer3
ENST00000268124.11:c.1086_1087dup MANE Select	ENSP00000268124.5:p.Tyr363PhefsTer3
ENST00000530292.3:c.687_688dup	ENSP00000432885.2:p.Tyr230PhefsTer3
ENST00000635986.2:c.1086_1087dup	ENSP00000490653.2:p.Tyr363PhefsTer3
ENST00000636774.1:c.1086_1087dup	ENSP00000489799.1:p.Tyr363PhefsTer3
ENST00000637264.1:c.158_159dup
ENST00000666746.1:c.743_744dup
ENST00000672071.1:n.1284_1285dup
ENST00000672923.2:n.83_84dup
ENST00000268124.9:c.1086_1087dup	ENSP00000268124.5:p.Tyr363PhefsTer3
ENST00000442287.6:c.1086_1087dup	ENSP00000399851.2:p.Tyr363PhefsTer3
ENST00000631044.2:c.*469_*470dup	ENSP00000486730.1:n.*469_*470dup
NM_001126131.1:c.1086_1087dup	NP_001119603.1:p.Tyr363PhefsTer3
NM_002693.2:c.1086_1087dup	NP_002684.1:p.Tyr363PhefsTer3
NM_001126131.2:c.1086_1087dup	NP_001119603.1:p.Tyr363PhefsTer3
NM_002693.3:c.1086_1087dup MANE Select	NP_002684.1:p.Tyr363PhefsTer3