Canonical Allele Identifier: CA969308888

Gene: SPG11

Linked Data

• dbSNP Id: rs2082722297
• gnomAD v3: 15-44584697-A-ACTGAG
• gnomAD v4: 15-44584697-A-ACTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584698_44584699insTGAGC , CM000677.2:g.44584698_44584699insTGAGC	GRCh38
NC_000015.9:g.44876896_44876897insTGAGC , CM000677.1:g.44876896_44876897insTGAGC	GRCh37
NC_000015.8:g.42664188_42664189insTGAGC	NCBI36
NG_008885.1:g.83981_83982insCTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5122-140_5122-139insCTCAG	ENSP00000453246.2:n.5122-140_5122-139insCTCAG
ENST00000561391.2:n.1350-140_1350-139insCTCAG
ENST00000682065.1:c.5122-284_5122-283insCTCAG	ENSP00000507025.1:n.5122-284_5122-283insCTCAG
ENST00000682460.1:c.*1379-140_*1379-139insCTCAG	ENSP00000508334.1:n.*1379-140_*1379-139insCTCAG
ENST00000682495.1:c.*1614-140_*1614-139insCTCAG	ENSP00000507166.1:n.*1614-140_*1614-139insCTCAG
ENST00000682669.1:c.4921-140_4921-139insCTCAG	ENSP00000507782.1:n.4921-140_4921-139insCTCAG
ENST00000683186.1:c.*1885-140_*1885-139insCTCAG	ENSP00000507268.1:n.*1885-140_*1885-139insCTCAG
ENST00000683496.1:c.5122-140_5122-139insCTCAG	ENSP00000506968.1:n.5122-140_5122-139insCTCAG
ENST00000683734.1:c.5122-140_5122-139insCTCAG	ENSP00000508319.1:n.5122-140_5122-139insCTCAG
ENST00000683753.1:n.4168-140_4168-139insCTCAG
ENST00000684038.1:c.*1542-140_*1542-139insCTCAG	ENSP00000507141.1:n.*1542-140_*1542-139insCTCAG
ENST00000684235.1:c.5122-140_5122-139insCTCAG	ENSP00000508295.1:n.5122-140_5122-139insCTCAG
ENST00000684676.1:c.5122-140_5122-139insCTCAG	ENSP00000506948.1:n.5122-140_5122-139insCTCAG
ENST00000261866.12:c.5122-140_5122-139insCTCAG MANE Select	ENSP00000261866.7:n.5122-140_5122-139insCTCAG
ENST00000261866.11:c.5122-140_5122-139insCTCAG	ENSP00000261866.7:n.5122-140_5122-139insCTCAG
ENST00000427534.6:c.5122-140_5122-139insCTCAG	ENSP00000396110.2:n.5122-140_5122-139insCTCAG
ENST00000535302.6:c.5122-140_5122-139insCTCAG	ENSP00000445278.2:n.5122-140_5122-139insCTCAG
ENST00000558319.5:c.5122-140_5122-139insCTCAG	ENSP00000453599.1:n.5122-140_5122-139insCTCAG
ENST00000558790.5:n.559-140_559-139insCTCAG
NM_001160227.1:c.5122-140_5122-139insCTCAG	NP_001153699.1:n.5122-140_5122-139insCTCAG
NM_025137.3:c.5122-140_5122-139insCTCAG	NP_079413.3:n.5122-140_5122-139insCTCAG
XM_005254695.3:c.4864-140_4864-139insCTCAG	XP_005254752.1:n.4864-140_4864-139insCTCAG
XM_006720700.1:c.5122-284_5122-283insCTCAG	XP_006720763.1:n.5122-284_5122-283insCTCAG
XM_017022634.1:c.5122-140_5122-139insCTCAG	XP_016878123.1:n.5122-140_5122-139insCTCAG
XM_017022636.1:c.1999-140_1999-139insCTCAG	XP_016878125.1:n.1999-140_1999-139insCTCAG
XR_931917.2:n.5176-140_5176-139insCTCAG
NM_025137.4:c.5122-140_5122-139insCTCAG MANE Select	NP_079413.3:n.5122-140_5122-139insCTCAG
NM_001160227.2:c.5122-140_5122-139insCTCAG	NP_001153699.1:n.5122-140_5122-139insCTCAG