Canonical Allele Identifier: CA716909943

Gene: POLG

Linked Data

• dbSNP Id: rs71149295
• gnomAD v3: 15-89325299-GGTGT-G
• gnomAD v4: 15-89325299-GGTGT-G
• MyVariant Identifiers: chr15:g.89868531_89868534del (hg19) ; chr15:g.89325300_89325303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325312_89325315del , CM000677.2:g.89325312_89325315del	GRCh38
NC_000015.9:g.89868543_89868546del , CM000677.1:g.89868543_89868546del	GRCh37
NC_000015.8:g.87669547_87669550del	NCBI36
NG_008218.1:g.14493_14496del
NG_008218.2:g.14493_14496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+147_1949+150del	ENSP00000516154.1:n.1949+147_1949+150del
ENST00000268124.11:c.1949+147_1949+150del MANE Select	ENSP00000268124.5:n.1949+147_1949+150del
ENST00000530292.3:c.1550+147_1550+150del	ENSP00000432885.2:n.1550+147_1550+150del
ENST00000635986.2:c.1949+147_1949+150del	ENSP00000490653.2:n.1949+147_1949+150del
ENST00000636774.1:c.*516+147_*516+150del	ENSP00000489799.1:n.*516+147_*516+150del
ENST00000637238.1:c.646+187_646+190del	ENSP00000490756.1:n.646+187_646+190del
ENST00000637264.1:c.1021+147_1021+150del
ENST00000666746.1:c.1526+147_1526+150del
ENST00000670281.1:c.269+147_269+150del	ENSP00000499709.1:n.269+147_269+150del
ENST00000672071.1:n.2147+147_2147+150del
ENST00000672923.2:n.2052+147_2052+150del
ENST00000268124.9:c.1949+147_1949+150del	ENSP00000268124.5:n.1949+147_1949+150del
ENST00000442287.6:c.1949+147_1949+150del	ENSP00000399851.2:n.1949+147_1949+150del
ENST00000526314.2:c.331+147_331+150del
ENST00000526398.1:c.138+147_138+150del
ENST00000526573.1:n.35+147_35+150del
ENST00000532584.5:n.151+147_151+150del
ENST00000631044.2:c.*1332+147_*1332+150del	ENSP00000486730.1:n.*1332+147_*1332+150del
NM_001126131.1:c.1949+147_1949+150del	NP_001119603.1:n.1949+147_1949+150del
NM_002693.2:c.1949+147_1949+150del	NP_002684.1:n.1949+147_1949+150del
NM_001126131.2:c.1949+147_1949+150del	NP_001119603.1:n.1949+147_1949+150del
NM_002693.3:c.1949+147_1949+150del MANE Select	NP_002684.1:n.1949+147_1949+150del