Canonical Allele Identifier: CA7534401

Gene: SPG11

Linked Data

• dbSNP Id: rs760270095
• ExAC: 15:44876404 TG / T
• gnomAD v2: 15-44876404-TG-T
• gnomAD v3: 15-44584206-TG-T
• gnomAD v4: 15-44584206-TG-T
• MyVariant Identifiers: chr15:g.44876405del (hg19) ; chr15:g.44584207del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584207del , CM000677.2:g.44584207del	GRCh38
NC_000015.9:g.44876405del , CM000677.1:g.44876405del	GRCh37
NC_000015.8:g.42663697del	NCBI36
NG_008885.1:g.84472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5473del	ENSP00000453246.2:p.Gln1825ArgfsTer13
ENST00000561391.2:n.1701del
ENST00000682065.1:c.5329del	ENSP00000507025.1:p.Gln1777ArgfsTer13
ENST00000682460.1:c.*1730del	ENSP00000508334.1:n.*1730del
ENST00000682495.1:c.*1965del	ENSP00000507166.1:n.*1965del
ENST00000682669.1:c.5272del	ENSP00000507782.1:p.Gln1758ArgfsTer13
ENST00000683186.1:c.*2236del	ENSP00000507268.1:n.*2236del
ENST00000683496.1:c.5473del	ENSP00000506968.1:p.Gln1825ArgfsTer13
ENST00000683734.1:c.5473del	ENSP00000508319.1:p.Gln1825ArgfsTer13
ENST00000683753.1:n.4519del
ENST00000684038.1:c.*1893del	ENSP00000507141.1:n.*1893del
ENST00000684235.1:c.5473del	ENSP00000508295.1:p.Gln1825ArgfsTer13
ENST00000684676.1:c.5473del	ENSP00000506948.1:p.Gln1825ArgfsTer13
ENST00000261866.12:c.5473del MANE Select	ENSP00000261866.7:p.Gln1825ArgfsTer13
ENST00000261866.11:c.5473del	ENSP00000261866.7:p.Gln1825ArgfsTer13
ENST00000427534.6:c.5473del	ENSP00000396110.2:p.Gln1825ArgfsTer13
ENST00000535302.6:c.5473del	ENSP00000445278.2:p.Gln1825ArgfsTer13
ENST00000558319.5:c.5473del	ENSP00000453599.1:p.Gln1825ArgfsTer13
ENST00000559511.5:c.321del
ENST00000559822.1:c.245del
NM_001160227.1:c.5473del	NP_001153699.1:p.Gln1825ArgfsTer13
NM_025137.3:c.5473del	NP_079413.3:p.Gln1825ArgfsTer13
XM_005254695.3:c.5215del	XP_005254752.1:p.Gln1739ArgfsTer13
XM_006720700.1:c.5329del	XP_006720763.1:p.Gln1777ArgfsTer13
XM_017022634.1:c.5473del	XP_016878123.1:p.Gln1825ArgfsTer13
XM_017022636.1:c.2350del	XP_016878125.1:p.Gln784ArgfsTer13
NM_025137.4:c.5473del MANE Select	NP_079413.3:p.Gln1825ArgfsTer13
NM_001160227.2:c.5473del	NP_001153699.1:p.Gln1825ArgfsTer13