Canonical Allele Identifier: CA713069341

Gene: SPG11

Linked Data

• dbSNP Id: rs1353241605
• MyVariant Identifiers: chr15:g.44876821_44876825del (hg19) ; chr15:g.44584623_44584627del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584624_44584628del , CM000677.2:g.44584624_44584628del	GRCh38
NC_000015.9:g.44876822_44876826del , CM000677.1:g.44876822_44876826del	GRCh37
NC_000015.8:g.42664114_42664118del	NCBI36
NG_008885.1:g.84052_84056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5122-69_5122-65del	ENSP00000453246.2:n.5122-69_5122-65del
ENST00000561391.2:n.1350-69_1350-65del
ENST00000682065.1:c.5122-213_5122-209del	ENSP00000507025.1:n.5122-213_5122-209del
ENST00000682460.1:c.*1379-69_*1379-65del	ENSP00000508334.1:n.*1379-69_*1379-65del
ENST00000682495.1:c.*1614-69_*1614-65del	ENSP00000507166.1:n.*1614-69_*1614-65del
ENST00000682669.1:c.4921-69_4921-65del	ENSP00000507782.1:n.4921-69_4921-65del
ENST00000683186.1:c.*1885-69_*1885-65del	ENSP00000507268.1:n.*1885-69_*1885-65del
ENST00000683496.1:c.5122-69_5122-65del	ENSP00000506968.1:n.5122-69_5122-65del
ENST00000683734.1:c.5122-69_5122-65del	ENSP00000508319.1:n.5122-69_5122-65del
ENST00000683753.1:n.4168-69_4168-65del
ENST00000684038.1:c.*1542-69_*1542-65del	ENSP00000507141.1:n.*1542-69_*1542-65del
ENST00000684235.1:c.5122-69_5122-65del	ENSP00000508295.1:n.5122-69_5122-65del
ENST00000684676.1:c.5122-69_5122-65del	ENSP00000506948.1:n.5122-69_5122-65del
ENST00000261866.12:c.5122-69_5122-65del MANE Select	ENSP00000261866.7:n.5122-69_5122-65del
ENST00000261866.11:c.5122-69_5122-65del	ENSP00000261866.7:n.5122-69_5122-65del
ENST00000427534.6:c.5122-69_5122-65del	ENSP00000396110.2:n.5122-69_5122-65del
ENST00000535302.6:c.5122-69_5122-65del	ENSP00000445278.2:n.5122-69_5122-65del
ENST00000558319.5:c.5122-69_5122-65del	ENSP00000453599.1:n.5122-69_5122-65del
ENST00000558790.5:n.559-69_559-65del
NM_001160227.1:c.5122-69_5122-65del	NP_001153699.1:n.5122-69_5122-65del
NM_025137.3:c.5122-69_5122-65del	NP_079413.3:n.5122-69_5122-65del
XM_005254695.3:c.4864-69_4864-65del	XP_005254752.1:n.4864-69_4864-65del
XM_006720700.1:c.5122-213_5122-209del	XP_006720763.1:n.5122-213_5122-209del
XM_017022634.1:c.5122-69_5122-65del	XP_016878123.1:n.5122-69_5122-65del
XM_017022636.1:c.1999-69_1999-65del	XP_016878125.1:n.1999-69_1999-65del
XR_931917.2:n.5176-69_5176-65del
NM_025137.4:c.5122-69_5122-65del MANE Select	NP_079413.3:n.5122-69_5122-65del
NM_001160227.2:c.5122-69_5122-65del	NP_001153699.1:n.5122-69_5122-65del