Canonical Allele Identifier: CA274554076

Gene: POLG

Linked Data

• dbSNP Id: rs572629297
• gnomAD v3: 15-89325363-CAA-C
• gnomAD v4: 15-89325363-CAA-C
• MyVariant Identifiers: chr15:g.89868595_89868596del (hg19) ; chr15:g.89325364_89325365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325365_89325366del , CM000677.2:g.89325365_89325366del	GRCh38
NC_000015.9:g.89868596_89868597del , CM000677.1:g.89868596_89868597del	GRCh37
NC_000015.8:g.87669600_87669601del	NCBI36
NG_008218.1:g.14431_14432del
NG_008218.2:g.14431_14432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+85_1949+86del	ENSP00000516154.1:n.1949+85_1949+86del
ENST00000268124.11:c.1949+85_1949+86del MANE Select	ENSP00000268124.5:n.1949+85_1949+86del
ENST00000530292.3:c.1550+85_1550+86del	ENSP00000432885.2:n.1550+85_1550+86del
ENST00000635986.2:c.1949+85_1949+86del	ENSP00000490653.2:n.1949+85_1949+86del
ENST00000636774.1:c.*516+85_*516+86del	ENSP00000489799.1:n.*516+85_*516+86del
ENST00000637238.1:c.646+125_646+126del	ENSP00000490756.1:n.646+125_646+126del
ENST00000637264.1:c.1021+85_1021+86del
ENST00000666746.1:c.1526+85_1526+86del
ENST00000670281.1:c.269+85_269+86del	ENSP00000499709.1:n.269+85_269+86del
ENST00000672071.1:n.2147+85_2147+86del
ENST00000672923.2:n.2052+85_2052+86del
ENST00000268124.9:c.1949+85_1949+86del	ENSP00000268124.5:n.1949+85_1949+86del
ENST00000442287.6:c.1949+85_1949+86del	ENSP00000399851.2:n.1949+85_1949+86del
ENST00000526314.2:c.331+85_331+86del
ENST00000526398.1:c.138+85_138+86del
ENST00000526573.1:n.35+85_35+86del
ENST00000532584.5:n.151+85_151+86del
ENST00000631044.2:c.*1332+85_*1332+86del	ENSP00000486730.1:n.*1332+85_*1332+86del
NM_001126131.1:c.1949+85_1949+86del	NP_001119603.1:n.1949+85_1949+86del
NM_002693.2:c.1949+85_1949+86del	NP_002684.1:n.1949+85_1949+86del
NM_001126131.2:c.1949+85_1949+86del	NP_001119603.1:n.1949+85_1949+86del
NM_002693.3:c.1949+85_1949+86del MANE Select	NP_002684.1:n.1949+85_1949+86del