Canonical Allele Identifier: CA919614052

Gene: POLG

Linked Data

• dbSNP Id: rs1596356493
• gnomAD v3: 15-89325251-AGAGAGAGTGAGTGAGTGAGT-A
• gnomAD v4: 15-89325251-AGAGAGAGTGAGTGAGTGAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325259_89325278del , CM000677.2:g.89325259_89325278del	GRCh38
NC_000015.9:g.89868490_89868509del , CM000677.1:g.89868490_89868509del	GRCh37
NC_000015.8:g.87669494_87669513del	NCBI36
NG_008218.1:g.14525_14544del
NG_008218.2:g.14525_14544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+179_1949+198del	ENSP00000516154.1:n.1949+179_1949+198del
ENST00000268124.11:c.1949+179_1949+198del MANE Select	ENSP00000268124.5:n.1949+179_1949+198del
ENST00000530292.3:c.1550+179_1550+198del	ENSP00000432885.2:n.1550+179_1550+198del
ENST00000635986.2:c.1949+179_1949+198del	ENSP00000490653.2:n.1949+179_1949+198del
ENST00000636774.1:c.*516+179_*516+198del	ENSP00000489799.1:n.*516+179_*516+198del
ENST00000637238.1:c.646+219_646+238del	ENSP00000490756.1:n.646+219_646+238del
ENST00000637264.1:c.1021+179_1021+198del
ENST00000666746.1:c.1526+179_1526+198del
ENST00000670281.1:c.269+179_269+198del	ENSP00000499709.1:n.269+179_269+198del
ENST00000672071.1:n.2147+179_2147+198del
ENST00000672923.2:n.2052+179_2052+198del
ENST00000268124.9:c.1949+179_1949+198del	ENSP00000268124.5:n.1949+179_1949+198del
ENST00000442287.6:c.1949+179_1949+198del	ENSP00000399851.2:n.1949+179_1949+198del
ENST00000526314.2:c.331+179_331+198del
ENST00000526398.1:c.138+179_138+198del
ENST00000526573.1:n.35+179_35+198del
ENST00000532584.5:n.151+179_151+198del
ENST00000631044.2:c.*1332+179_*1332+198del	ENSP00000486730.1:n.*1332+179_*1332+198del
NM_001126131.1:c.1949+179_1949+198del	NP_001119603.1:n.1949+179_1949+198del
NM_002693.2:c.1949+179_1949+198del	NP_002684.1:n.1949+179_1949+198del
NM_001126131.2:c.1949+179_1949+198del	NP_001119603.1:n.1949+179_1949+198del
NM_002693.3:c.1949+179_1949+198del MANE Select	NP_002684.1:n.1949+179_1949+198del