Canonical Allele Identifier: CA972589074

Gene: POLG

Linked Data

• dbSNP Id: rs2055487187
• gnomAD v3: 15-89325207-AGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGT-A
• gnomAD v4: 15-89325207-AGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325227_89325278del , CM000677.2:g.89325227_89325278del	GRCh38
NC_000015.9:g.89868458_89868509del , CM000677.1:g.89868458_89868509del	GRCh37
NC_000015.8:g.87669462_87669513del	NCBI36
NG_008218.1:g.14537_14588del
NG_008218.2:g.14537_14588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+191_1949+242del	ENSP00000516154.1:n.1949+191_1949+242del
ENST00000268124.11:c.1949+191_1949+242del MANE Select	ENSP00000268124.5:n.1949+191_1949+242del
ENST00000530292.3:c.1550+191_1550+242del	ENSP00000432885.2:n.1550+191_1550+242del
ENST00000635986.2:c.1949+191_1949+242del	ENSP00000490653.2:n.1949+191_1949+242del
ENST00000636774.1:c.*516+191_*516+242del	ENSP00000489799.1:n.*516+191_*516+242del
ENST00000637238.1:c.646+231_646+282del	ENSP00000490756.1:n.646+231_646+282del
ENST00000637264.1:c.1021+191_1021+242del
ENST00000666746.1:c.1526+191_1526+242del
ENST00000670281.1:c.269+191_269+242del	ENSP00000499709.1:n.269+191_269+242del
ENST00000672071.1:n.2147+191_2147+242del
ENST00000672923.2:n.2052+191_2052+242del
ENST00000268124.9:c.1949+191_1949+242del	ENSP00000268124.5:n.1949+191_1949+242del
ENST00000442287.6:c.1949+191_1949+242del	ENSP00000399851.2:n.1949+191_1949+242del
ENST00000526314.2:c.331+191_331+242del
ENST00000526398.1:c.138+191_138+242del
ENST00000526573.1:n.35+191_35+242del
ENST00000532584.5:n.151+191_151+242del
ENST00000631044.2:c.*1332+191_*1332+242del	ENSP00000486730.1:n.*1332+191_*1332+242del
NM_001126131.1:c.1949+191_1949+242del	NP_001119603.1:n.1949+191_1949+242del
NM_002693.2:c.1949+191_1949+242del	NP_002684.1:n.1949+191_1949+242del
NM_001126131.2:c.1949+191_1949+242del	NP_001119603.1:n.1949+191_1949+242del
NM_002693.3:c.1949+191_1949+242del MANE Select	NP_002684.1:n.1949+191_1949+242del