Canonical Allele Identifier: CA16620019

Gene: POLG

Linked Data

• ClinVar Variation Id: 419336
• ClinVar RCV Id: RCV000481750 ; RCV001389063
• dbSNP Id: rs1064793800
• gnomAD v3: 15-89318661-T-TCAAA
• gnomAD v4: 15-89318661-T-TCAAA
• MyVariant Identifiers: chr15:g.89861893_89861896dupCAAA (hg19) ; chr15:g.89861892_89861893insCAAA (hg19) ; chr15:g.89318662_89318665dupCAAA (hg38) ; chr15:g.89318661_89318662insCAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318664_89318667dup , CM000677.2:g.89318664_89318667dup	GRCh38
NC_000015.9:g.89861895_89861898dup , CM000677.1:g.89861895_89861898dup	GRCh37
NC_000015.8:g.87662899_87662902dup	NCBI36
NG_008218.1:g.21131_21134dup
NG_011736.1:g.79702_79705dup , LRG_500:g.79702_79705dup
NG_008218.2:g.21131_21134dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3358_3361dup	ENSP00000516154.1:p.Glu1121ValfsTer2
ENST00000268124.11:c.3358_3361dup MANE Select	ENSP00000268124.5:p.Glu1121ValfsTer2
ENST00000530292.3:c.2959_2962dup	ENSP00000432885.2:p.Glu988ValfsTer2
ENST00000635986.2:c.*428_*431dup	ENSP00000490653.2:n.*428_*431dup
ENST00000636774.1:c.*1925_*1928dup	ENSP00000489799.1:n.*1925_*1928dup
ENST00000637238.1:c.2167_2170dup	ENSP00000490756.1:n.2167_2170dup
ENST00000637264.1:c.2430_2433dup
ENST00000666746.1:c.2935_2938dup
ENST00000672071.1:n.3556_3559dup
ENST00000672695.1:n.535_538dup
ENST00000672923.2:n.3358_3361dup
ENST00000268124.9:c.3358_3361dup	ENSP00000268124.5:p.Glu1121ValfsTer2
ENST00000442287.6:c.3358_3361dup	ENSP00000399851.2:p.Glu1121ValfsTer2
ENST00000530292.2:c.442_445dup	ENSP00000432885.1:p.Glu149ValfsTer2
ENST00000631044.2:c.*2782_*2785dup	ENSP00000486730.1:n.*2782_*2785dup
NM_001126131.1:c.3358_3361dup	NP_001119603.1:p.Glu1121ValfsTer2
NM_002693.2:c.3358_3361dup	NP_002684.1:p.Glu1121ValfsTer2
NM_001126131.2:c.3358_3361dup	NP_001119603.1:p.Glu1121ValfsTer2
NM_002693.3:c.3358_3361dup MANE Select	NP_002684.1:p.Glu1121ValfsTer2