Canonical Allele Identifier: CA972588266

Gene: POLG

Linked Data

• dbSNP Id: rs2055478336
• gnomAD v3: 15-89325151-TGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGA-T
• gnomAD v4: 15-89325151-TGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325175_89325278del , CM000677.2:g.89325175_89325278del	GRCh38
NC_000015.9:g.89868406_89868509del , CM000677.1:g.89868406_89868509del	GRCh37
NC_000015.8:g.87669410_87669513del	NCBI36
NG_008218.1:g.14541_14644del
NG_008218.2:g.14541_14644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+195_1949+298del	ENSP00000516154.1:n.1949+195_1949+298del
ENST00000268124.11:c.1949+195_1949+298del MANE Select	ENSP00000268124.5:n.1949+195_1949+298del
ENST00000530292.3:c.1550+195_1550+298del	ENSP00000432885.2:n.1550+195_1550+298del
ENST00000635986.2:c.1949+195_1949+298del	ENSP00000490653.2:n.1949+195_1949+298del
ENST00000636774.1:c.*516+195_*516+298del	ENSP00000489799.1:n.*516+195_*516+298del
ENST00000637238.1:c.646+235_646+338del	ENSP00000490756.1:n.646+235_646+338del
ENST00000637264.1:c.1021+195_1021+298del
ENST00000666746.1:c.1526+195_1526+298del
ENST00000670281.1:c.269+195_269+298del	ENSP00000499709.1:n.269+195_269+298del
ENST00000672071.1:n.2147+195_2147+298del
ENST00000672923.2:n.2052+195_2052+298del
ENST00000268124.9:c.1949+195_1949+298del	ENSP00000268124.5:n.1949+195_1949+298del
ENST00000442287.6:c.1949+195_1949+298del	ENSP00000399851.2:n.1949+195_1949+298del
ENST00000526314.2:c.331+195_331+298del
ENST00000526398.1:c.138+195_138+298del
ENST00000526573.1:n.35+195_35+298del
ENST00000532584.5:n.151+195_151+298del
ENST00000631044.2:c.*1332+195_*1332+298del	ENSP00000486730.1:n.*1332+195_*1332+298del
NM_001126131.1:c.1949+195_1949+298del	NP_001119603.1:n.1949+195_1949+298del
NM_002693.2:c.1949+195_1949+298del	NP_002684.1:n.1949+195_1949+298del
NM_001126131.2:c.1949+195_1949+298del	NP_001119603.1:n.1949+195_1949+298del
NM_002693.3:c.1949+195_1949+298del MANE Select	NP_002684.1:n.1949+195_1949+298del