Canonical Allele Identifier: CA604506190

Gene: LRRK2

Linked Data

• dbSNP Id: rs1485759504
• gnomAD v2: 12-40757273-T-TA
• gnomAD v4: 12-40363471-T-TA
• MyVariant Identifiers: chr12:g.40757273_40757274insA (hg19) ; chr12:g.40363471_40363472insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363473dup , CM000674.2:g.40363473dup	GRCh38
NC_000012.11:g.40757275dup , CM000674.1:g.40757275dup	GRCh37
NC_000012.10:g.39043542dup	NCBI36
NG_011709.1:g.143463dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7100dup MANE Select	ENSP00000298910.7:p.Gln2368AlafsTer3
ENST00000636518.1:c.897dup
ENST00000679360.1:c.*6009dup	ENSP00000505368.1:n.*6009dup
ENST00000679532.1:c.2874dup
ENST00000679683.1:c.890dup
ENST00000680018.1:c.2545dup	ENSP00000505347.1:n.2545dup
ENST00000680422.1:c.4187dup
ENST00000680425.1:c.2267dup	ENSP00000506459.1:n.2267dup
ENST00000680453.1:c.2557dup
ENST00000680790.1:c.6845dup	ENSP00000505335.1:p.Gln2283AlafsTer3
ENST00000681136.1:n.3084dup
ENST00000681696.1:c.2783dup	ENSP00000505871.1:p.Gln929AlafsTer3
ENST00000681773.1:n.307dup
ENST00000298910.11:c.7100dup	ENSP00000298910.7:p.Gln2368AlafsTer3
ENST00000430804.5:c.4396dup
ENST00000479187.5:n.3781dup
NM_198578.3:c.7100dup	NP_940980.3:p.Gln2368AlafsTer3
XM_005268629.2:c.7100dup	XP_005268686.1:p.Gln2368AlafsTer3
XM_011537877.1:c.7100dup	XP_011536179.1:p.Gln2368AlafsTer3
XM_011537879.1:c.5897dup	XP_011536181.1:p.Gln1967AlafsTer3
XR_944868.1:n.485-8645dup
XM_005268629.4:c.7100dup	XP_005268686.1:p.Gln2368AlafsTer3
XM_011537877.3:c.7100dup	XP_011536179.1:p.Gln2368AlafsTer3
XM_017018787.1:c.4016dup	XP_016874276.1:p.Gln1340AlafsTer3
XM_017018788.2:c.3362dup	XP_016874277.1:p.Gln1122AlafsTer3
XM_024448833.1:c.5897dup	XP_024304601.1:p.Gln1967AlafsTer3
XR_944868.2:n.485-8645dup
NM_198578.4:c.7100dup MANE Select	NP_940980.4:p.Gln2368AlafsTer3