Canonical Allele Identifier: CA2575122014
Gene: LRRK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40320245_40320250del , CM000674.2:g.40320245_40320250del GRCh38
NC_000012.11:g.40714047_40714052del , CM000674.1:g.40714047_40714052del GRCh37
NC_000012.10:g.39000314_39000319del NCBI36
NG_011709.1:g.100235_100240del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.5015+70_5015+75del MANE Select ENSP00000298910.7:n.5015+70_5015+75del
ENST00000679360.1:c.*3924+70_*3924+75del ENSP00000505368.1:n.*3924+70_*3924+75del
ENST00000679532.1:c.789+70_789+75del
ENST00000680018.1:c.460+70_460+75del ENSP00000505347.1:n.460+70_460+75del
ENST00000680422.1:c.660+70_660+75del
ENST00000680425.1:c.183-789_183-784del ENSP00000506459.1:n.183-789_183-784del
ENST00000680453.1:c.473-789_473-784del
ENST00000680790.1:c.4760+70_4760+75del ENSP00000505335.1:n.4760+70_4760+75del
ENST00000681136.1:n.999+70_999+75del
ENST00000681696.1:c.698+70_698+75del ENSP00000505871.1:n.698+70_698+75del
ENST00000298910.11:c.5015+70_5015+75del ENSP00000298910.7:n.5015+70_5015+75del
ENST00000430804.5:c.2311+70_2311+75del
ENST00000479187.5:n.1696+70_1696+75del
NM_198578.3:c.5015+70_5015+75del NP_940980.3:n.5015+70_5015+75del
XM_005268629.2:c.5015+70_5015+75del XP_005268686.1:n.5015+70_5015+75del
XM_011537877.1:c.5015+70_5015+75del XP_011536179.1:n.5015+70_5015+75del
XM_011537878.1:c.5015+70_5015+75del XP_011536180.1:n.5015+70_5015+75del
XM_011537879.1:c.3812+70_3812+75del XP_011536181.1:n.3812+70_3812+75del
XM_011537881.1:c.4828-789_4828-784del XP_011536183.1:n.4828-789_4828-784del
XM_005268629.4:c.5015+70_5015+75del XP_005268686.1:n.5015+70_5015+75del
XM_011537877.3:c.5015+70_5015+75del XP_011536179.1:n.5015+70_5015+75del
XM_011537881.3:c.4828-789_4828-784del XP_011536183.1:n.4828-789_4828-784del
XM_017018787.1:c.1931+70_1931+75del XP_016874276.1:n.1931+70_1931+75del
XM_017018788.2:c.1277+70_1277+75del XP_016874277.1:n.1277+70_1277+75del
XM_024448833.1:c.3812+70_3812+75del XP_024304601.1:n.3812+70_3812+75del
XR_001748574.2:n.5383+70_5383+75del
NM_198578.4:c.5015+70_5015+75del MANE Select NP_940980.4:n.5015+70_5015+75del