Canonical Allele Identifier: CA972586706

Gene: POLG

Linked Data

• gnomAD v3: 15-89325105-TGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGA-T
• gnomAD v4: 15-89325105-TGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325135_89325278del , CM000677.2:g.89325135_89325278del	GRCh38
NC_000015.9:g.89868366_89868509del , CM000677.1:g.89868366_89868509del	GRCh37
NC_000015.8:g.87669370_87669513del	NCBI36
NG_008218.1:g.14547_14690del
NG_008218.2:g.14547_14690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+201_1949+344del	ENSP00000516154.1:n.1949+201_1949+344del
ENST00000268124.11:c.1949+201_1949+344del MANE Select	ENSP00000268124.5:n.1949+201_1949+344del
ENST00000530292.3:c.1550+201_1550+344del	ENSP00000432885.2:n.1550+201_1550+344del
ENST00000635986.2:c.1949+201_1949+344del	ENSP00000490653.2:n.1949+201_1949+344del
ENST00000636774.1:c.*516+201_*516+344del	ENSP00000489799.1:n.*516+201_*516+344del
ENST00000637238.1:c.646+241_646+384del	ENSP00000490756.1:n.646+241_646+384del
ENST00000637264.1:c.1021+201_1021+344del
ENST00000666746.1:c.1526+201_1526+344del
ENST00000670281.1:c.269+201_269+344del	ENSP00000499709.1:n.269+201_269+344del
ENST00000672071.1:n.2147+201_2147+344del
ENST00000672923.2:n.2052+201_2052+344del
ENST00000268124.9:c.1949+201_1949+344del	ENSP00000268124.5:n.1949+201_1949+344del
ENST00000442287.6:c.1949+201_1949+344del	ENSP00000399851.2:n.1949+201_1949+344del
ENST00000526314.2:c.331+201_331+344del
ENST00000526398.1:c.138+201_138+344del
ENST00000526573.1:n.35+201_35+344del
ENST00000532584.5:n.151+201_151+344del
ENST00000631044.2:c.*1332+201_*1332+344del	ENSP00000486730.1:n.*1332+201_*1332+344del
NM_001126131.1:c.1949+201_1949+344del	NP_001119603.1:n.1949+201_1949+344del
NM_002693.2:c.1949+201_1949+344del	NP_002684.1:n.1949+201_1949+344del
NM_001126131.2:c.1949+201_1949+344del	NP_001119603.1:n.1949+201_1949+344del
NM_002693.3:c.1949+201_1949+344del MANE Select	NP_002684.1:n.1949+201_1949+344del