Canonical Allele Identifier: CA2173715446

Gene: SPG11

Linked Data

• dbSNP Id: rs2083986457

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44629178_44629179del , CM000677.2:g.44629178_44629179del	GRCh38
NC_000015.9:g.44921376_44921377del , CM000677.1:g.44921376_44921377del	GRCh37
NC_000015.8:g.42708668_42708669del	NCBI36
NG_008885.1:g.39501_39502del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.1891+55_1891+56del	ENSP00000453246.2:n.1891+55_1891+56del
ENST00000682065.1:c.1891+55_1891+56del	ENSP00000507025.1:n.1891+55_1891+56del
ENST00000682410.1:n.1920+55_1920+56del
ENST00000682460.1:c.1891+55_1891+56del	ENSP00000508334.1:n.1891+55_1891+56del
ENST00000682495.1:c.1891+55_1891+56del	ENSP00000507166.1:n.1891+55_1891+56del
ENST00000682669.1:c.1891+55_1891+56del	ENSP00000507782.1:n.1891+55_1891+56del
ENST00000682788.1:c.1891+55_1891+56del	ENSP00000508089.1:n.1891+55_1891+56del
ENST00000682877.1:n.1922+55_1922+56del
ENST00000682915.1:c.1891+55_1891+56del	ENSP00000507493.1:n.1891+55_1891+56del
ENST00000683121.1:c.1891+55_1891+56del	ENSP00000507557.1:n.1891+55_1891+56del
ENST00000683186.1:c.1891+55_1891+56del	ENSP00000507268.1:n.1891+55_1891+56del
ENST00000683255.1:c.1891+55_1891+56del	ENSP00000508340.1:n.1891+55_1891+56del
ENST00000683496.1:c.1891+55_1891+56del	ENSP00000506968.1:n.1891+55_1891+56del
ENST00000683573.1:c.1891+55_1891+56del	ENSP00000508031.1:n.1891+55_1891+56del
ENST00000683734.1:c.1891+55_1891+56del	ENSP00000508319.1:n.1891+55_1891+56del
ENST00000683753.1:n.1015+55_1015+56del
ENST00000684038.1:c.1633+55_1633+56del	ENSP00000507141.1:n.1633+55_1633+56del
ENST00000684235.1:c.1891+55_1891+56del	ENSP00000508295.1:n.1891+55_1891+56del
ENST00000684490.1:n.1906+55_1906+56del
ENST00000684676.1:c.1891+55_1891+56del	ENSP00000506948.1:n.1891+55_1891+56del
ENST00000261866.12:c.1891+55_1891+56del MANE Select	ENSP00000261866.7:n.1891+55_1891+56del
ENST00000261866.11:c.1891+55_1891+56del	ENSP00000261866.7:n.1891+55_1891+56del
ENST00000427534.6:c.1891+55_1891+56del	ENSP00000396110.2:n.1891+55_1891+56del
ENST00000535302.6:c.1891+55_1891+56del	ENSP00000445278.2:n.1891+55_1891+56del
ENST00000558319.5:c.1891+55_1891+56del	ENSP00000453599.1:n.1891+55_1891+56del
ENST00000559193.5:c.1891+55_1891+56del	ENSP00000453848.1:n.1891+55_1891+56del
NM_001160227.1:c.1891+55_1891+56del	NP_001153699.1:n.1891+55_1891+56del
NM_025137.3:c.1891+55_1891+56del	NP_079413.3:n.1891+55_1891+56del
XM_005254695.3:c.1633+55_1633+56del	XP_005254752.1:n.1633+55_1633+56del
XM_006720700.1:c.1891+55_1891+56del	XP_006720763.1:n.1891+55_1891+56del
XM_006720701.2:c.1891+55_1891+56del	XP_006720764.1:n.1891+55_1891+56del
XM_011522093.1:c.1891+55_1891+56del	XP_011520395.1:n.1891+55_1891+56del
XR_931917.1:n.1922+55_1922+56del
XM_006720701.3:c.1891+55_1891+56del	XP_006720764.1:n.1891+55_1891+56del
XM_017022634.1:c.1891+55_1891+56del	XP_016878123.1:n.1891+55_1891+56del
XM_017022635.2:c.1891+55_1891+56del	XP_016878124.1:n.1891+55_1891+56del
XR_001751402.1:n.1922+55_1922+56del
XR_931917.2:n.1922+55_1922+56del
NM_025137.4:c.1891+55_1891+56del MANE Select	NP_079413.3:n.1891+55_1891+56del
NM_001160227.2:c.1891+55_1891+56del	NP_001153699.1:n.1891+55_1891+56del