Canonical Allele Identifier: CA972588985

Gene: POLG

Linked Data

• dbSNP Id: rs2055486099
• gnomAD v3: 15-89325199-TGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGA-T
• gnomAD v4: 15-89325199-TGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325203_89325292del , CM000677.2:g.89325203_89325292del	GRCh38
NC_000015.9:g.89868434_89868523del , CM000677.1:g.89868434_89868523del	GRCh37
NC_000015.8:g.87669438_87669527del	NCBI36
NG_008218.1:g.14507_14596del
NG_008218.2:g.14507_14596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+161_1949+250del	ENSP00000516154.1:n.1949+161_1949+250del
ENST00000268124.11:c.1949+161_1949+250del MANE Select	ENSP00000268124.5:n.1949+161_1949+250del
ENST00000530292.3:c.1550+161_1550+250del	ENSP00000432885.2:n.1550+161_1550+250del
ENST00000635986.2:c.1949+161_1949+250del	ENSP00000490653.2:n.1949+161_1949+250del
ENST00000636774.1:c.*516+161_*516+250del	ENSP00000489799.1:n.*516+161_*516+250del
ENST00000637238.1:c.646+201_646+290del	ENSP00000490756.1:n.646+201_646+290del
ENST00000637264.1:c.1021+161_1021+250del
ENST00000666746.1:c.1526+161_1526+250del
ENST00000670281.1:c.269+161_269+250del	ENSP00000499709.1:n.269+161_269+250del
ENST00000672071.1:n.2147+161_2147+250del
ENST00000672923.2:n.2052+161_2052+250del
ENST00000268124.9:c.1949+161_1949+250del	ENSP00000268124.5:n.1949+161_1949+250del
ENST00000442287.6:c.1949+161_1949+250del	ENSP00000399851.2:n.1949+161_1949+250del
ENST00000526314.2:c.331+161_331+250del
ENST00000526398.1:c.138+161_138+250del
ENST00000526573.1:n.35+161_35+250del
ENST00000532584.5:n.151+161_151+250del
ENST00000631044.2:c.*1332+161_*1332+250del	ENSP00000486730.1:n.*1332+161_*1332+250del
NM_001126131.1:c.1949+161_1949+250del	NP_001119603.1:n.1949+161_1949+250del
NM_002693.2:c.1949+161_1949+250del	NP_002684.1:n.1949+161_1949+250del
NM_001126131.2:c.1949+161_1949+250del	NP_001119603.1:n.1949+161_1949+250del
NM_002693.3:c.1949+161_1949+250del MANE Select	NP_002684.1:n.1949+161_1949+250del