Canonical Allele Identifier: CA645575461

Gene: SPG11

Linked Data

• gnomAD v4: 15-44598789-AAGG-A
• COSMIC: COSM4449900 ; COSM4449901

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598795_44598797del , CM000677.2:g.44598795_44598797del	GRCh38
NC_000015.9:g.44890993_44890995del , CM000677.1:g.44890993_44890995del	GRCh37
NC_000015.8:g.42678285_42678287del	NCBI36
NG_008885.1:g.69887_69889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3731_3733del	ENSP00000453246.2:p.Ser1244del
ENST00000682065.1:c.3731_3733del	ENSP00000507025.1:p.Ser1244del
ENST00000682460.1:c.*151_*153del	ENSP00000508334.1:n.*151_*153del
ENST00000682495.1:c.*223_*225del	ENSP00000507166.1:n.*223_*225del
ENST00000682669.1:c.3530_3532del	ENSP00000507782.1:p.Ser1177del
ENST00000682788.1:c.3731_3733del	ENSP00000508089.1:p.Ser1244del
ENST00000682915.1:c.3824_3826del	ENSP00000507493.1:n.3824_3826del
ENST00000683121.1:c.3731_3733del	ENSP00000507557.1:p.Ser1244del
ENST00000683186.1:c.*494_*496del	ENSP00000507268.1:n.*494_*496del
ENST00000683496.1:c.3731_3733del	ENSP00000506968.1:p.Ser1244del
ENST00000683734.1:c.3731_3733del	ENSP00000508319.1:p.Ser1244del
ENST00000683753.1:n.2777_2779del
ENST00000683838.1:n.805_807del
ENST00000684038.1:c.*151_*153del	ENSP00000507141.1:n.*151_*153del
ENST00000684235.1:c.3731_3733del	ENSP00000508295.1:p.Ser1244del
ENST00000684676.1:c.3731_3733del	ENSP00000506948.1:p.Ser1244del
ENST00000261866.12:c.3731_3733del MANE Select	ENSP00000261866.7:p.Ser1244del
ENST00000261866.11:c.3731_3733del	ENSP00000261866.7:p.Ser1244del
ENST00000427534.6:c.3731_3733del	ENSP00000396110.2:p.Ser1244del
ENST00000535302.6:c.3731_3733del	ENSP00000445278.2:p.Ser1244del
ENST00000558093.1:n.345_347del
ENST00000558319.5:c.3731_3733del	ENSP00000453599.1:p.Ser1244del
NM_001160227.1:c.3731_3733del	NP_001153699.1:p.Ser1244del
NM_025137.3:c.3731_3733del	NP_079413.3:p.Ser1244del
XM_005254695.3:c.3473_3475del	XP_005254752.1:p.Ser1158del
XM_006720700.1:c.3731_3733del	XP_006720763.1:p.Ser1244del
XM_006720701.2:c.3731_3733del	XP_006720764.1:p.Ser1244del
XM_011522093.1:c.3687-419_3687-417del	XP_011520395.1:n.3687-419_3687-417del
XR_931917.1:n.3762_3764del
XM_006720701.3:c.3731_3733del	XP_006720764.1:p.Ser1244del
XM_017022634.1:c.3731_3733del	XP_016878123.1:p.Ser1244del
XM_017022635.2:c.3731_3733del	XP_016878124.1:p.Ser1244del
XM_017022636.1:c.608_610del	XP_016878125.1:p.Ser203del
XR_001751402.1:n.3718-419_3718-417del
XR_931917.2:n.3762_3764del
NM_025137.4:c.3731_3733del MANE Select	NP_079413.3:p.Ser1244del
NM_001160227.2:c.3731_3733del	NP_001153699.1:p.Ser1244del