Canonical Allele Identifier: CA2575828838

Gene: POLG

Linked Data

• ClinVar Variation Id: 1916406
• ClinVar RCV Id: RCV002590398
• gnomAD v4: 15-89326990-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326994_89326996del , CM000677.2:g.89326994_89326996del	GRCh38
NC_000015.9:g.89870225_89870227del , CM000677.1:g.89870225_89870227del	GRCh37
NC_000015.8:g.87671229_87671231del	NCBI36
NG_008218.1:g.12803_12805del
NG_008218.2:g.12803_12805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1504_1506del	ENSP00000516154.1:p.Lys502del
ENST00000268124.11:c.1504_1506del MANE Select	ENSP00000268124.5:p.Lys502del
ENST00000530292.3:c.1105_1107del	ENSP00000432885.2:p.Lys369del
ENST00000635986.2:c.1504_1506del	ENSP00000490653.2:p.Lys502del
ENST00000636774.1:c.*71_*73del	ENSP00000489799.1:n.*71_*73del
ENST00000637238.1:c.241_243del	ENSP00000490756.1:p.Lys81del
ENST00000637264.1:c.576_578del
ENST00000666746.1:c.1081_1083del
ENST00000672071.1:n.1702_1704del
ENST00000672923.2:n.1607_1609del
ENST00000268124.9:c.1504_1506del	ENSP00000268124.5:p.Lys502del
ENST00000442287.6:c.1504_1506del	ENSP00000399851.2:p.Lys502del
ENST00000631044.2:c.*887_*889del	ENSP00000486730.1:n.*887_*889del
NM_001126131.1:c.1504_1506del	NP_001119603.1:p.Lys502del
NM_002693.2:c.1504_1506del	NP_002684.1:p.Lys502del
NM_001126131.2:c.1504_1506del	NP_001119603.1:p.Lys502del
NM_002693.3:c.1504_1506del MANE Select	NP_002684.1:p.Lys502del