Canonical Allele Identifier: CA2618286438

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40363537-CTGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363541_40363544del , CM000674.2:g.40363541_40363544del	GRCh38
NC_000012.11:g.40757343_40757346del , CM000674.1:g.40757343_40757346del	GRCh37
NC_000012.10:g.39043610_39043613del	NCBI36
NG_011709.1:g.143531_143534del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7168_7171del MANE Select	ENSP00000298910.7:p.Val2390ThrfsTer3
ENST00000636518.1:c.965_968del
ENST00000679360.1:c.*6077_*6080del	ENSP00000505368.1:n.*6077_*6080del
ENST00000679532.1:c.2942_2945del
ENST00000679683.1:c.958_961del
ENST00000680018.1:c.2613_2616del	ENSP00000505347.1:n.2613_2616del
ENST00000680422.1:c.4255_4258del
ENST00000680425.1:c.2335_2338del	ENSP00000506459.1:n.2335_2338del
ENST00000680453.1:c.2625_2628del
ENST00000680790.1:c.6913_6916del	ENSP00000505335.1:p.Val2305ThrfsTer3
ENST00000681136.1:n.3152_3155del
ENST00000681696.1:c.2851_2854del	ENSP00000505871.1:p.Val951ThrfsTer3
ENST00000681773.1:n.375_378del
ENST00000298910.11:c.7168_7171del	ENSP00000298910.7:p.Val2390ThrfsTer3
ENST00000430804.5:c.4464_4467del
ENST00000479187.5:n.3849_3852del
NM_198578.3:c.7168_7171del	NP_940980.3:p.Val2390ThrfsTer3
XM_005268629.2:c.7168_7171del	XP_005268686.1:p.Val2390ThrfsTer3
XM_011537877.1:c.7168_7171del	XP_011536179.1:p.Val2390ThrfsTer3
XM_011537879.1:c.5965_5968del	XP_011536181.1:p.Val1989ThrfsTer3
XR_944868.1:n.485-8714_485-8711del
XM_005268629.4:c.7168_7171del	XP_005268686.1:p.Val2390ThrfsTer3
XM_011537877.3:c.7168_7171del	XP_011536179.1:p.Val2390ThrfsTer3
XM_017018787.1:c.4084_4087del	XP_016874276.1:p.Val1362ThrfsTer3
XM_017018788.2:c.3430_3433del	XP_016874277.1:p.Val1144ThrfsTer3
XM_024448833.1:c.5965_5968del	XP_024304601.1:p.Val1989ThrfsTer3
XR_944868.2:n.485-8714_485-8711del
NM_198578.4:c.7168_7171del MANE Select	NP_940980.4:p.Val2390ThrfsTer3