Canonical Allele Identifier: CA2618285231

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40340335-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340335_40340336insT , CM000674.2:g.40340335_40340336insT	GRCh38
NC_000012.11:g.40734137_40734138insT , CM000674.1:g.40734137_40734138insT	GRCh37
NC_000012.10:g.39020404_39020405insT	NCBI36
NG_011709.1:g.120325_120326insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.5990_5991insT MANE Select	ENSP00000298910.7:p.His1998ProfsTer20
ENST00000679360.1:c.*4899_*4900insT	ENSP00000505368.1:n.*4899_*4900insT
ENST00000679532.1:c.1764_1765insT
ENST00000680018.1:c.1435_1436insT	ENSP00000505347.1:n.1435_1436insT
ENST00000680422.1:c.1635_1636insT
ENST00000680425.1:c.1157_1158insT	ENSP00000506459.1:n.1157_1158insT
ENST00000680453.1:c.1447_1448insT
ENST00000680790.1:c.5735_5736insT	ENSP00000505335.1:p.His1913ProfsTer20
ENST00000681136.1:n.1974_1975insT
ENST00000681696.1:c.1673_1674insT	ENSP00000505871.1:p.His559ProfsTer20
ENST00000298910.11:c.5990_5991insT	ENSP00000298910.7:p.His1998ProfsTer20
ENST00000430804.5:c.3286_3287insT
ENST00000479187.5:n.2671_2672insT
NM_198578.3:c.5990_5991insT	NP_940980.3:p.His1998ProfsTer20
XM_005268629.2:c.5990_5991insT	XP_005268686.1:p.His1998ProfsTer20
XM_011537877.1:c.5990_5991insT	XP_011536179.1:p.His1998ProfsTer20
XM_011537878.1:c.5990_5991insT	XP_011536180.1:p.His1998ProfsTer20
XM_011537879.1:c.4787_4788insT	XP_011536181.1:p.His1597ProfsTer20
XM_005268629.4:c.5990_5991insT	XP_005268686.1:p.His1998ProfsTer20
XM_011537877.3:c.5990_5991insT	XP_011536179.1:p.His1998ProfsTer20
XM_017018787.1:c.2906_2907insT	XP_016874276.1:p.His970ProfsTer20
XM_017018788.2:c.2252_2253insT	XP_016874277.1:p.His752ProfsTer20
XM_024448833.1:c.4787_4788insT	XP_024304601.1:p.His1597ProfsTer20
NM_198578.4:c.5990_5991insT MANE Select	NP_940980.4:p.His1998ProfsTer20