Canonical Allele Identifier: CA619857351

Gene: POLG

Linked Data

• dbSNP Id: rs1310418556
• gnomAD v2: 15-89864198-C-CGG
• gnomAD v3: 15-89320967-C-CGG
• gnomAD v4: 15-89320967-C-CGG
• MyVariant Identifiers: chr15:g.89864198_89864199insGG (hg19) ; chr15:g.89320967_89320968insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320967_89320968insGG , CM000677.2:g.89320967_89320968insGG	GRCh38
NC_000015.9:g.89864198_89864199insGG , CM000677.1:g.89864198_89864199insGG	GRCh37
NC_000015.8:g.87665202_87665203insGG	NCBI36
NG_008218.1:g.18828_18829insCC
NG_008218.2:g.18828_18829insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2779_2780insCC	ENSP00000516154.1:p.Arg927ThrfsTer?
ENST00000268124.11:c.2779_2780insCC MANE Select	ENSP00000268124.5:p.Arg927ThrfsTer?
ENST00000530292.3:c.2380_2381insCC	ENSP00000432885.2:p.Arg794ThrfsTer?
ENST00000635986.2:c.2779_2780insCC	ENSP00000490653.2:p.Arg927ThrfsTer?
ENST00000636774.1:c.*1346_*1347insCC	ENSP00000489799.1:n.*1346_*1347insCC
ENST00000637238.1:c.1588_1589insCC	ENSP00000490756.1:n.1588_1589insCC
ENST00000637264.1:c.1851_1852insCC
ENST00000666746.1:c.2356_2357insCC
ENST00000670281.1:c.800+994_800+995insCC	ENSP00000499709.1:n.800+994_800+995insCC
ENST00000672071.1:n.2977_2978insCC
ENST00000672923.2:n.2721_2722insCC
ENST00000268124.9:c.2779_2780insCC	ENSP00000268124.5:p.Arg927ThrfsTer?
ENST00000442287.6:c.2779_2780insCC	ENSP00000399851.2:p.Arg927ThrfsTer?
ENST00000528881.2:c.376_377insCC
ENST00000530715.5:c.186-99_186-98insCC	ENSP00000431395.1:n.186-99_186-98insCC
ENST00000631044.2:c.*2203_*2204insCC	ENSP00000486730.1:n.*2203_*2204insCC
NM_001126131.1:c.2779_2780insCC	NP_001119603.1:p.Arg927ThrfsTer?
NM_002693.2:c.2779_2780insCC	NP_002684.1:p.Arg927ThrfsTer?
NM_001126131.2:c.2779_2780insCC	NP_001119603.1:p.Arg927ThrfsTer?
NM_002693.3:c.2779_2780insCC MANE Select	NP_002684.1:p.Arg927ThrfsTer?