Canonical Allele Identifier: CA969302005

Gene: SPG11

Linked Data

• gnomAD v3: 15-44573546-CCTGTTCCCTGTGATGAAGTAAGCAGCTCCCGTGTCACCT-C
• gnomAD v4: 15-44573546-CCTGTTCCCTGTGATGAAGTAAGCAGCTCCCGTGTCACCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573549_44573587del , CM000677.2:g.44573549_44573587del	GRCh38
NC_000015.9:g.44865747_44865785del , CM000677.1:g.44865747_44865785del	GRCh37
NC_000015.8:g.42653039_42653077del	NCBI36
NG_008885.1:g.95094_95132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-2927_5867-2889del	ENSP00000453246.2:n.5867-2927_5867-2889del
ENST00000561391.2:n.2395_2433del
ENST00000682065.1:c.6023_6061del	ENSP00000507025.1:p.Glu2008_Thr2020del
ENST00000682460.1:c.*2424_*2462del	ENSP00000508334.1:n.*2424_*2462del
ENST00000682495.1:c.*2659_*2697del	ENSP00000507166.1:n.*2659_*2697del
ENST00000682669.1:c.5966_6004del	ENSP00000507782.1:p.Glu1989_Thr2001del
ENST00000683186.1:c.*2930_*2968del	ENSP00000507268.1:n.*2930_*2968del
ENST00000683496.1:c.6006+1317_6006+1355del	ENSP00000506968.1:n.6006+1317_6006+1355del
ENST00000683734.1:c.*117_*155del	ENSP00000508319.1:n.*117_*155del
ENST00000683753.1:n.5213_5251del
ENST00000684038.1:c.*2587_*2625del	ENSP00000507141.1:n.*2587_*2625del
ENST00000684235.1:c.6167_6205del	ENSP00000508295.1:p.Glu2056_Thr2068del
ENST00000684676.1:c.*316_*354del	ENSP00000506948.1:n.*316_*354del
ENST00000261866.12:c.6167_6205del MANE Select	ENSP00000261866.7:p.Glu2056_Thr2068del
ENST00000261866.11:c.6167_6205del	ENSP00000261866.7:p.Glu2056_Thr2068del
ENST00000427534.6:c.6167_6205del	ENSP00000396110.2:p.Glu2056_Thr2068del
ENST00000535302.6:c.5867-765_5867-727del	ENSP00000445278.2:n.5867-765_5867-727del
ENST00000558080.1:n.532_570del
ENST00000558319.5:c.6167_6205del	ENSP00000453599.1:p.Glu2056_Thr2068del
ENST00000559511.5:c.715-2927_715-2889del
ENST00000559933.1:n.236_274del
ENST00000561268.5:n.99_137del
NM_001160227.1:c.5867-765_5867-727del	NP_001153699.1:n.5867-765_5867-727del
NM_025137.3:c.6167_6205del	NP_079413.3:p.Glu2056_Thr2068del
XM_005254695.3:c.5909_5947del	XP_005254752.1:p.Glu1970_Thr1982del
XM_006720700.1:c.6023_6061del	XP_006720763.1:p.Glu2008_Thr2020del
XM_017022634.1:c.6167_6205del	XP_016878123.1:p.Glu2056_Thr2068del
XM_017022636.1:c.3044_3082del	XP_016878125.1:p.Glu1015_Thr1027del
NM_025137.4:c.6167_6205del MANE Select	NP_079413.3:p.Glu2056_Thr2068del
NM_001160227.2:c.5867-765_5867-727del	NP_001153699.1:n.5867-765_5867-727del