Canonical Allele Identifier: CA7724548

Gene: POLG

Linked Data

• dbSNP Id: rs775577764
• ExAC: 15:89866702 T / TGA
• gnomAD v2: 15-89866702-T-TGA
• gnomAD v3: 15-89323471-T-TGA
• gnomAD v4: 15-89323471-T-TGA
• MyVariant Identifiers: chr15:g.89866702_89866703insGA (hg19) ; chr15:g.89323471_89323472insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323472_89323473dup , CM000677.2:g.89323472_89323473dup	GRCh38
NC_000015.9:g.89866703_89866704dup , CM000677.1:g.89866703_89866704dup	GRCh37
NC_000015.8:g.87667707_87667708dup	NCBI36
NG_008218.1:g.16323_16324dup
NG_008218.2:g.16323_16324dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2196_2197dup	ENSP00000516154.1:p.His733LeufsTer?
ENST00000268124.11:c.2196_2197dup MANE Select	ENSP00000268124.5:p.His733LeufsTer?
ENST00000530292.3:c.1797_1798dup	ENSP00000432885.2:p.His600LeufsTer?
ENST00000635986.2:c.2196_2197dup	ENSP00000490653.2:p.His733LeufsTer?
ENST00000636774.1:c.*763_*764dup	ENSP00000489799.1:n.*763_*764dup
ENST00000637238.1:c.893_894dup	ENSP00000490756.1:n.893_894dup
ENST00000637264.1:c.1268_1269dup
ENST00000666746.1:c.1773_1774dup
ENST00000670281.1:c.516_517dup	ENSP00000499709.1:p.His173LeufsTer?
ENST00000672071.1:n.2394_2395dup
ENST00000672923.2:n.2299_2300dup
ENST00000268124.9:c.2196_2197dup	ENSP00000268124.5:p.His733LeufsTer?
ENST00000442287.6:c.2196_2197dup	ENSP00000399851.2:p.His733LeufsTer?
ENST00000526314.2:c.539+342_539+343dup
ENST00000526398.1:c.345_346dup
ENST00000532584.5:n.398_399dup
ENST00000631044.2:c.*1620_*1621dup	ENSP00000486730.1:n.*1620_*1621dup
NM_001126131.1:c.2196_2197dup	NP_001119603.1:p.His733LeufsTer?
NM_002693.2:c.2196_2197dup	NP_002684.1:p.His733LeufsTer?
NM_001126131.2:c.2196_2197dup	NP_001119603.1:p.His733LeufsTer?
NM_002693.3:c.2196_2197dup MANE Select	NP_002684.1:p.His733LeufsTer?