Canonical Allele Identifier: CA6513850

Gene: LRRK2

Linked Data

• dbSNP Id: rs753067556
• ExAC: 12:40692099 CCTT / C
• gnomAD v2: 12-40692099-CCTT-C
• gnomAD v4: 12-40298297-CCTT-C
• MyVariant Identifiers: chr12:g.40692100_40692102del (hg19) ; chr12:g.40298298_40298300del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40298301_40298303del , CM000674.2:g.40298301_40298303del	GRCh38
NC_000012.11:g.40692103_40692105del , CM000674.1:g.40692103_40692105del	GRCh37
NC_000012.10:g.38978370_38978372del	NCBI36
NG_011709.1:g.78291_78293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.3155_3157del MANE Select	ENSP00000298910.7:p.Ser1052del
ENST00000679360.1:c.*2064_*2066del	ENSP00000505368.1:n.*2064_*2066del
ENST00000680790.1:c.2900_2902del	ENSP00000505335.1:p.Ser967del
ENST00000298910.11:c.3155_3157del	ENSP00000298910.7:p.Ser1052del
ENST00000343742.6:c.3155_3157del	ENSP00000341930.2:p.Ser1052del
ENST00000430804.5:c.199_201del
NM_198578.3:c.3155_3157del	NP_940980.3:p.Ser1052del
XM_005268629.2:c.3155_3157del	XP_005268686.1:p.Ser1052del
XM_011537877.1:c.3155_3157del	XP_011536179.1:p.Ser1052del
XM_011537878.1:c.3155_3157del	XP_011536180.1:p.Ser1052del
XM_011537879.1:c.1952_1954del	XP_011536181.1:p.Ser651del
XM_011537880.1:c.3155_3157del	XP_011536182.1:p.Ser1052del
XM_011537881.1:c.3155_3157del	XP_011536183.1:p.Ser1052del
XM_011537882.1:c.3155_3157del	XP_011536184.1:p.Ser1052del
XM_005268629.4:c.3155_3157del	XP_005268686.1:p.Ser1052del
XM_011537877.3:c.3155_3157del	XP_011536179.1:p.Ser1052del
XM_011537881.3:c.3155_3157del	XP_011536183.1:p.Ser1052del
XM_011537882.3:c.3155_3157del	XP_011536184.1:p.Ser1052del
XM_017018786.2:c.3155_3157del	XP_016874275.1:p.Ser1052del
XM_017018787.1:c.71_73del	XP_016874276.1:p.Ser24del
XM_017018789.2:c.3155_3157del	XP_016874278.1:p.Ser1052del
XM_024448833.1:c.1952_1954del	XP_024304601.1:p.Ser651del
XR_001748574.2:n.3397_3399del
NM_198578.4:c.3155_3157del MANE Select	NP_940980.4:p.Ser1052del