Canonical Allele Identifier: CA2194549521

Gene: POLG

Linked Data

• dbSNP Id: rs2055500689
• gnomAD v4: 15-89325369-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325371_89325372del , CM000677.2:g.89325371_89325372del	GRCh38
NC_000015.9:g.89868602_89868603del , CM000677.1:g.89868602_89868603del	GRCh37
NC_000015.8:g.87669606_87669607del	NCBI36
NG_008218.1:g.14425_14426del
NG_008218.2:g.14425_14426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+79_1949+80del	ENSP00000516154.1:n.1949+79_1949+80del
ENST00000268124.11:c.1949+79_1949+80del MANE Select	ENSP00000268124.5:n.1949+79_1949+80del
ENST00000530292.3:c.1550+79_1550+80del	ENSP00000432885.2:n.1550+79_1550+80del
ENST00000635986.2:c.1949+79_1949+80del	ENSP00000490653.2:n.1949+79_1949+80del
ENST00000636774.1:c.*516+79_*516+80del	ENSP00000489799.1:n.*516+79_*516+80del
ENST00000637238.1:c.646+119_646+120del	ENSP00000490756.1:n.646+119_646+120del
ENST00000637264.1:c.1021+79_1021+80del
ENST00000666746.1:c.1526+79_1526+80del
ENST00000670281.1:c.269+79_269+80del	ENSP00000499709.1:n.269+79_269+80del
ENST00000672071.1:n.2147+79_2147+80del
ENST00000672923.2:n.2052+79_2052+80del
ENST00000268124.9:c.1949+79_1949+80del	ENSP00000268124.5:n.1949+79_1949+80del
ENST00000442287.6:c.1949+79_1949+80del	ENSP00000399851.2:n.1949+79_1949+80del
ENST00000526314.2:c.331+79_331+80del
ENST00000526398.1:c.138+79_138+80del
ENST00000526573.1:n.35+79_35+80del
ENST00000532584.5:n.151+79_151+80del
ENST00000631044.2:c.*1332+79_*1332+80del	ENSP00000486730.1:n.*1332+79_*1332+80del
NM_001126131.1:c.1949+79_1949+80del	NP_001119603.1:n.1949+79_1949+80del
NM_002693.2:c.1949+79_1949+80del	NP_002684.1:n.1949+79_1949+80del
NM_001126131.2:c.1949+79_1949+80del	NP_001119603.1:n.1949+79_1949+80del
NM_002693.3:c.1949+79_1949+80del MANE Select	NP_002684.1:n.1949+79_1949+80del