Canonical Allele Identifier: CA713054661

Gene: SPG11

Linked Data

• dbSNP Id: rs1301239673
• gnomAD v4: 15-44575154-TCTGA-T
• MyVariant Identifiers: chr15:g.44867353_44867356del (hg19) ; chr15:g.44575155_44575158del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44575158_44575161del , CM000677.2:g.44575158_44575161del	GRCh38
NC_000015.9:g.44867356_44867359del , CM000677.1:g.44867356_44867359del	GRCh37
NC_000015.8:g.42654648_42654651del	NCBI36
NG_008885.1:g.93521_93524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4500_5867-4497del	ENSP00000453246.2:n.5867-4500_5867-4497del
ENST00000561391.2:n.2095-117_2095-114del
ENST00000682065.1:c.5723-117_5723-114del	ENSP00000507025.1:n.5723-117_5723-114del
ENST00000682460.1:c.*2124-117_*2124-114del	ENSP00000508334.1:n.*2124-117_*2124-114del
ENST00000682495.1:c.*2359-117_*2359-114del	ENSP00000507166.1:n.*2359-117_*2359-114del
ENST00000682669.1:c.5666-117_5666-114del	ENSP00000507782.1:n.5666-117_5666-114del
ENST00000683186.1:c.*2630-117_*2630-114del	ENSP00000507268.1:n.*2630-117_*2630-114del
ENST00000683496.1:c.5867-117_5867-114del	ENSP00000506968.1:n.5867-117_5867-114del
ENST00000683734.1:c.5867-1413_5867-1410del	ENSP00000508319.1:n.5867-1413_5867-1410del
ENST00000683753.1:n.4913-117_4913-114del
ENST00000684038.1:c.*2287-117_*2287-114del	ENSP00000507141.1:n.*2287-117_*2287-114del
ENST00000684235.1:c.5867-117_5867-114del	ENSP00000508295.1:n.5867-117_5867-114del
ENST00000684676.1:c.*16-117_*16-114del	ENSP00000506948.1:n.*16-117_*16-114del
ENST00000261866.12:c.5867-117_5867-114del MANE Select	ENSP00000261866.7:n.5867-117_5867-114del
ENST00000261866.11:c.5867-117_5867-114del	ENSP00000261866.7:n.5867-117_5867-114del
ENST00000427534.6:c.5867-117_5867-114del	ENSP00000396110.2:n.5867-117_5867-114del
ENST00000535302.6:c.5867-2338_5867-2335del	ENSP00000445278.2:n.5867-2338_5867-2335del
ENST00000558080.1:n.115_118del
ENST00000558319.5:c.5867-117_5867-114del	ENSP00000453599.1:n.5867-117_5867-114del
ENST00000559511.5:c.715-4500_715-4497del
ENST00000559822.1:c.410-117_410-114del
NM_001160227.1:c.5867-2338_5867-2335del	NP_001153699.1:n.5867-2338_5867-2335del
NM_025137.3:c.5867-117_5867-114del	NP_079413.3:n.5867-117_5867-114del
XM_005254695.3:c.5609-117_5609-114del	XP_005254752.1:n.5609-117_5609-114del
XM_006720700.1:c.5723-117_5723-114del	XP_006720763.1:n.5723-117_5723-114del
XM_017022634.1:c.5867-117_5867-114del	XP_016878123.1:n.5867-117_5867-114del
XM_017022636.1:c.2744-117_2744-114del	XP_016878125.1:n.2744-117_2744-114del
NM_025137.4:c.5867-117_5867-114del MANE Select	NP_079413.3:n.5867-117_5867-114del
NM_001160227.2:c.5867-2338_5867-2335del	NP_001153699.1:n.5867-2338_5867-2335del