Canonical Allele Identifier: CA891844008

Gene: SPG11

Linked Data

• ClinVar Variation Id: 571055
• ClinVar RCV Id: RCV000692085
• dbSNP Id: rs1567138536
• gnomAD v4: 15-44584202-GATCTGTCGAGAAA-G
• MyVariant Identifiers: chr15:g.44876401_44876413del (hg19) ; chr15:g.44584203_44584215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584208_44584220del , CM000677.2:g.44584208_44584220del	GRCh38
NC_000015.9:g.44876406_44876418del , CM000677.1:g.44876406_44876418del	GRCh37
NC_000015.8:g.42663698_42663710del	NCBI36
NG_008885.1:g.84464_84476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5465_5477del	ENSP00000453246.2:p.Phe1822SerfsTer12
ENST00000561391.2:n.1693_1705del
ENST00000682065.1:c.5321_5333del	ENSP00000507025.1:p.Phe1774SerfsTer12
ENST00000682460.1:c.*1722_*1734del	ENSP00000508334.1:n.*1722_*1734del
ENST00000682495.1:c.*1957_*1969del	ENSP00000507166.1:n.*1957_*1969del
ENST00000682669.1:c.5264_5276del	ENSP00000507782.1:p.Phe1755SerfsTer12
ENST00000683186.1:c.*2228_*2240del	ENSP00000507268.1:n.*2228_*2240del
ENST00000683496.1:c.5465_5477del	ENSP00000506968.1:p.Phe1822SerfsTer12
ENST00000683734.1:c.5465_5477del	ENSP00000508319.1:p.Phe1822SerfsTer12
ENST00000683753.1:n.4511_4523del
ENST00000684038.1:c.*1885_*1897del	ENSP00000507141.1:n.*1885_*1897del
ENST00000684235.1:c.5465_5477del	ENSP00000508295.1:p.Phe1822SerfsTer12
ENST00000684676.1:c.5465_5477del	ENSP00000506948.1:p.Phe1822SerfsTer12
ENST00000261866.12:c.5465_5477del MANE Select	ENSP00000261866.7:p.Phe1822SerfsTer12
ENST00000261866.11:c.5465_5477del	ENSP00000261866.7:p.Phe1822SerfsTer12
ENST00000427534.6:c.5465_5477del	ENSP00000396110.2:p.Phe1822SerfsTer12
ENST00000535302.6:c.5465_5477del	ENSP00000445278.2:p.Phe1822SerfsTer12
ENST00000558319.5:c.5465_5477del	ENSP00000453599.1:p.Phe1822SerfsTer12
ENST00000559511.5:c.313_325del
ENST00000559822.1:c.237_249del
NM_001160227.1:c.5465_5477del	NP_001153699.1:p.Phe1822SerfsTer12
NM_025137.3:c.5465_5477del	NP_079413.3:p.Phe1822SerfsTer12
XM_005254695.3:c.5207_5219del	XP_005254752.1:p.Phe1736SerfsTer12
XM_006720700.1:c.5321_5333del	XP_006720763.1:p.Phe1774SerfsTer12
XM_017022634.1:c.5465_5477del	XP_016878123.1:p.Phe1822SerfsTer12
XM_017022636.1:c.2342_2354del	XP_016878125.1:p.Phe781SerfsTer12
NM_025137.4:c.5465_5477del MANE Select	NP_079413.3:p.Phe1822SerfsTer12
NM_001160227.2:c.5465_5477del	NP_001153699.1:p.Phe1822SerfsTer12