Canonical Allele Identifier: CA2628205376

Gene: SPG11

Linked Data

• gnomAD v4: 15-44608432-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44608435del , CM000677.2:g.44608435del	GRCh38
NC_000015.9:g.44900633del , CM000677.1:g.44900633del	GRCh37
NC_000015.8:g.42687925del	NCBI36
NG_008885.1:g.60246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3453+11del	ENSP00000453246.2:n.3453+11del
ENST00000682065.1:c.3453+11del	ENSP00000507025.1:n.3453+11del
ENST00000682460.1:c.3453+11del	ENSP00000508334.1:n.3453+11del
ENST00000682495.1:c.3453+11del	ENSP00000507166.1:n.3453+11del
ENST00000682669.1:c.3453+11del	ENSP00000507782.1:n.3453+11del
ENST00000682788.1:c.3453+11del	ENSP00000508089.1:n.3453+11del
ENST00000682915.1:c.3453+11del	ENSP00000507493.1:n.3453+11del
ENST00000683121.1:c.3453+11del	ENSP00000507557.1:n.3453+11del
ENST00000683186.1:c.*283+11del	ENSP00000507268.1:n.*283+11del
ENST00000683255.1:c.*283+11del	ENSP00000508340.1:n.*283+11del
ENST00000683496.1:c.3453+11del	ENSP00000506968.1:n.3453+11del
ENST00000683734.1:c.3453+11del	ENSP00000508319.1:n.3453+11del
ENST00000683753.1:n.2499+11del
ENST00000684038.1:c.3195+11del	ENSP00000507141.1:n.3195+11del
ENST00000684235.1:c.3453+11del	ENSP00000508295.1:n.3453+11del
ENST00000684676.1:c.3453+11del	ENSP00000506948.1:n.3453+11del
ENST00000261866.12:c.3453+11del MANE Select	ENSP00000261866.7:n.3453+11del
ENST00000261866.11:c.3453+11del	ENSP00000261866.7:n.3453+11del
ENST00000427534.6:c.3453+11del	ENSP00000396110.2:n.3453+11del
ENST00000535302.6:c.3453+11del	ENSP00000445278.2:n.3453+11del
ENST00000558319.5:c.3453+11del	ENSP00000453599.1:n.3453+11del
ENST00000558988.5:c.180+11del	ENSP00000453921.1:n.180+11del
ENST00000559754.1:c.182+11del
NM_001160227.1:c.3453+11del	NP_001153699.1:n.3453+11del
NM_025137.3:c.3453+11del	NP_079413.3:n.3453+11del
XM_005254695.3:c.3195+11del	XP_005254752.1:n.3195+11del
XM_006720700.1:c.3453+11del	XP_006720763.1:n.3453+11del
XM_006720701.2:c.3453+11del	XP_006720764.1:n.3453+11del
XM_011522093.1:c.3453+11del	XP_011520395.1:n.3453+11del
XR_931917.1:n.3484+11del
XM_006720701.3:c.3453+11del	XP_006720764.1:n.3453+11del
XM_017022634.1:c.3453+11del	XP_016878123.1:n.3453+11del
XM_017022635.2:c.3453+11del	XP_016878124.1:n.3453+11del
XM_017022636.1:c.330+11del	XP_016878125.1:n.330+11del
XR_001751402.1:n.3484+11del
XR_931917.2:n.3484+11del
NM_025137.4:c.3453+11del MANE Select	NP_079413.3:n.3453+11del
NM_001160227.2:c.3453+11del	NP_001153699.1:n.3453+11del