Canonical Allele Identifier: CA716909942

Gene: POLG

Linked Data

• dbSNP Id: rs71149295
• gnomAD v3: 15-89325299-G-GGTGTGTGTGTGTGTGT
• gnomAD v4: 15-89325299-G-GGTGTGTGTGTGTGTGT
• MyVariant Identifiers: chr15:g.89868530_89868531insGTGTGTGTGTGTGTGT (hg19) ; chr15:g.89325299_89325300insGTGTGTGTGTGTGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325300_89325315dup , CM000677.2:g.89325300_89325315dup	GRCh38
NC_000015.9:g.89868531_89868546dup , CM000677.1:g.89868531_89868546dup	GRCh37
NC_000015.8:g.87669535_87669550dup	NCBI36
NG_008218.1:g.14481_14496dup
NG_008218.2:g.14481_14496dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+135_1949+150dup	ENSP00000516154.1:n.1949+135_1949+150dup
ENST00000268124.11:c.1949+135_1949+150dup MANE Select	ENSP00000268124.5:n.1949+135_1949+150dup
ENST00000530292.3:c.1550+135_1550+150dup	ENSP00000432885.2:n.1550+135_1550+150dup
ENST00000635986.2:c.1949+135_1949+150dup	ENSP00000490653.2:n.1949+135_1949+150dup
ENST00000636774.1:c.*516+135_*516+150dup	ENSP00000489799.1:n.*516+135_*516+150dup
ENST00000637238.1:c.646+175_646+190dup	ENSP00000490756.1:n.646+175_646+190dup
ENST00000637264.1:c.1021+135_1021+150dup
ENST00000666746.1:c.1526+135_1526+150dup
ENST00000670281.1:c.269+135_269+150dup	ENSP00000499709.1:n.269+135_269+150dup
ENST00000672071.1:n.2147+135_2147+150dup
ENST00000672923.2:n.2052+135_2052+150dup
ENST00000268124.9:c.1949+135_1949+150dup	ENSP00000268124.5:n.1949+135_1949+150dup
ENST00000442287.6:c.1949+135_1949+150dup	ENSP00000399851.2:n.1949+135_1949+150dup
ENST00000526314.2:c.331+135_331+150dup
ENST00000526398.1:c.138+135_138+150dup
ENST00000526573.1:n.35+135_35+150dup
ENST00000532584.5:n.151+135_151+150dup
ENST00000631044.2:c.*1332+135_*1332+150dup	ENSP00000486730.1:n.*1332+135_*1332+150dup
NM_001126131.1:c.1949+135_1949+150dup	NP_001119603.1:n.1949+135_1949+150dup
NM_002693.2:c.1949+135_1949+150dup	NP_002684.1:n.1949+135_1949+150dup
NM_001126131.2:c.1949+135_1949+150dup	NP_001119603.1:n.1949+135_1949+150dup
NM_002693.3:c.1949+135_1949+150dup MANE Select	NP_002684.1:n.1949+135_1949+150dup