Canonical Allele Identifier: CA655846992

Gene: SPG11

Linked Data

• COSMIC: COSN20081806

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584617_44584618insA , CM000677.2:g.44584617_44584618insA	GRCh38
NC_000015.9:g.44876815_44876816insA , CM000677.1:g.44876815_44876816insA	GRCh37
NC_000015.8:g.42664107_42664108insA	NCBI36
NG_008885.1:g.84061_84062insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5122-60_5122-59insT	ENSP00000453246.2:n.5122-60_5122-59insT
ENST00000561391.2:n.1350-60_1350-59insT
ENST00000682065.1:c.5122-204_5122-203insT	ENSP00000507025.1:n.5122-204_5122-203insT
ENST00000682460.1:c.*1379-60_*1379-59insT	ENSP00000508334.1:n.*1379-60_*1379-59insT
ENST00000682495.1:c.*1614-60_*1614-59insT	ENSP00000507166.1:n.*1614-60_*1614-59insT
ENST00000682669.1:c.4921-60_4921-59insT	ENSP00000507782.1:n.4921-60_4921-59insT
ENST00000683186.1:c.*1885-60_*1885-59insT	ENSP00000507268.1:n.*1885-60_*1885-59insT
ENST00000683496.1:c.5122-60_5122-59insT	ENSP00000506968.1:n.5122-60_5122-59insT
ENST00000683734.1:c.5122-60_5122-59insT	ENSP00000508319.1:n.5122-60_5122-59insT
ENST00000683753.1:n.4168-60_4168-59insT
ENST00000684038.1:c.*1542-60_*1542-59insT	ENSP00000507141.1:n.*1542-60_*1542-59insT
ENST00000684235.1:c.5122-60_5122-59insT	ENSP00000508295.1:n.5122-60_5122-59insT
ENST00000684676.1:c.5122-60_5122-59insT	ENSP00000506948.1:n.5122-60_5122-59insT
ENST00000261866.12:c.5122-60_5122-59insT MANE Select	ENSP00000261866.7:n.5122-60_5122-59insT
ENST00000261866.11:c.5122-60_5122-59insT	ENSP00000261866.7:n.5122-60_5122-59insT
ENST00000427534.6:c.5122-60_5122-59insT	ENSP00000396110.2:n.5122-60_5122-59insT
ENST00000535302.6:c.5122-60_5122-59insT	ENSP00000445278.2:n.5122-60_5122-59insT
ENST00000558319.5:c.5122-60_5122-59insT	ENSP00000453599.1:n.5122-60_5122-59insT
ENST00000558790.5:n.559-60_559-59insT
NM_001160227.1:c.5122-60_5122-59insT	NP_001153699.1:n.5122-60_5122-59insT
NM_025137.3:c.5122-60_5122-59insT	NP_079413.3:n.5122-60_5122-59insT
XM_005254695.3:c.4864-60_4864-59insT	XP_005254752.1:n.4864-60_4864-59insT
XM_006720700.1:c.5122-204_5122-203insT	XP_006720763.1:n.5122-204_5122-203insT
XM_017022634.1:c.5122-60_5122-59insT	XP_016878123.1:n.5122-60_5122-59insT
XM_017022636.1:c.1999-60_1999-59insT	XP_016878125.1:n.1999-60_1999-59insT
XR_931917.2:n.5176-60_5176-59insT
NM_025137.4:c.5122-60_5122-59insT MANE Select	NP_079413.3:n.5122-60_5122-59insT
NM_001160227.2:c.5122-60_5122-59insT	NP_001153699.1:n.5122-60_5122-59insT