Canonical Allele Identifier: CA972589784

Gene: POLG

Linked Data

• dbSNP Id: rs2055495338
• gnomAD v3: 15-89325267-TGAGTGA-T
• gnomAD v4: 15-89325267-TGAGTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325271_89325276del , CM000677.2:g.89325271_89325276del	GRCh38
NC_000015.9:g.89868502_89868507del , CM000677.1:g.89868502_89868507del	GRCh37
NC_000015.8:g.87669506_87669511del	NCBI36
NG_008218.1:g.14523_14528del
NG_008218.2:g.14523_14528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+177_1949+182del	ENSP00000516154.1:n.1949+177_1949+182del
ENST00000268124.11:c.1949+177_1949+182del MANE Select	ENSP00000268124.5:n.1949+177_1949+182del
ENST00000530292.3:c.1550+177_1550+182del	ENSP00000432885.2:n.1550+177_1550+182del
ENST00000635986.2:c.1949+177_1949+182del	ENSP00000490653.2:n.1949+177_1949+182del
ENST00000636774.1:c.*516+177_*516+182del	ENSP00000489799.1:n.*516+177_*516+182del
ENST00000637238.1:c.646+217_646+222del	ENSP00000490756.1:n.646+217_646+222del
ENST00000637264.1:c.1021+177_1021+182del
ENST00000666746.1:c.1526+177_1526+182del
ENST00000670281.1:c.269+177_269+182del	ENSP00000499709.1:n.269+177_269+182del
ENST00000672071.1:n.2147+177_2147+182del
ENST00000672923.2:n.2052+177_2052+182del
ENST00000268124.9:c.1949+177_1949+182del	ENSP00000268124.5:n.1949+177_1949+182del
ENST00000442287.6:c.1949+177_1949+182del	ENSP00000399851.2:n.1949+177_1949+182del
ENST00000526314.2:c.331+177_331+182del
ENST00000526398.1:c.138+177_138+182del
ENST00000526573.1:n.35+177_35+182del
ENST00000532584.5:n.151+177_151+182del
ENST00000631044.2:c.*1332+177_*1332+182del	ENSP00000486730.1:n.*1332+177_*1332+182del
NM_001126131.1:c.1949+177_1949+182del	NP_001119603.1:n.1949+177_1949+182del
NM_002693.2:c.1949+177_1949+182del	NP_002684.1:n.1949+177_1949+182del
NM_001126131.2:c.1949+177_1949+182del	NP_001119603.1:n.1949+177_1949+182del
NM_002693.3:c.1949+177_1949+182del MANE Select	NP_002684.1:n.1949+177_1949+182del