Canonical Allele Identifier: CA619514226

Gene: POLG

Linked Data

• dbSNP Id: rs1555453409
• gnomAD v2: 15-89868546-T-TG
• gnomAD v3: 15-89325315-T-TG
• gnomAD v4: 15-89325315-T-TG
• MyVariant Identifiers: chr15:g.89868546_89868547insG (hg19) ; chr15:g.89325315_89325316insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325315_89325316insG , CM000677.2:g.89325315_89325316insG	GRCh38
NC_000015.9:g.89868546_89868547insG , CM000677.1:g.89868546_89868547insG	GRCh37
NC_000015.8:g.87669550_87669551insG	NCBI36
NG_008218.1:g.14480_14481insC
NG_008218.2:g.14480_14481insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+134_1949+135insC	ENSP00000516154.1:n.1949+134_1949+135insC
ENST00000268124.11:c.1949+134_1949+135insC MANE Select	ENSP00000268124.5:n.1949+134_1949+135insC
ENST00000530292.3:c.1550+134_1550+135insC	ENSP00000432885.2:n.1550+134_1550+135insC
ENST00000635986.2:c.1949+134_1949+135insC	ENSP00000490653.2:n.1949+134_1949+135insC
ENST00000636774.1:c.*516+134_*516+135insC	ENSP00000489799.1:n.*516+134_*516+135insC
ENST00000637238.1:c.646+174_646+175insC	ENSP00000490756.1:n.646+174_646+175insC
ENST00000637264.1:c.1021+134_1021+135insC
ENST00000666746.1:c.1526+134_1526+135insC
ENST00000670281.1:c.269+134_269+135insC	ENSP00000499709.1:n.269+134_269+135insC
ENST00000672071.1:n.2147+134_2147+135insC
ENST00000672923.2:n.2052+134_2052+135insC
ENST00000268124.9:c.1949+134_1949+135insC	ENSP00000268124.5:n.1949+134_1949+135insC
ENST00000442287.6:c.1949+134_1949+135insC	ENSP00000399851.2:n.1949+134_1949+135insC
ENST00000526314.2:c.331+134_331+135insC
ENST00000526398.1:c.138+134_138+135insC
ENST00000526573.1:n.35+134_35+135insC
ENST00000532584.5:n.151+134_151+135insC
ENST00000631044.2:c.*1332+134_*1332+135insC	ENSP00000486730.1:n.*1332+134_*1332+135insC
NM_001126131.1:c.1949+134_1949+135insC	NP_001119603.1:n.1949+134_1949+135insC
NM_002693.2:c.1949+134_1949+135insC	NP_002684.1:n.1949+134_1949+135insC
NM_001126131.2:c.1949+134_1949+135insC	NP_001119603.1:n.1949+134_1949+135insC
NM_002693.3:c.1949+134_1949+135insC MANE Select	NP_002684.1:n.1949+134_1949+135insC