Canonical Allele Identifier: CA2532544777

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598805_44598806insTGCTTG , CM000677.2:g.44598805_44598806insTGCTTG	GRCh38
NC_000015.9:g.44891003_44891004insTGCTTG , CM000677.1:g.44891003_44891004insTGCTTG	GRCh37
NC_000015.8:g.42678295_42678296insTGCTTG	NCBI36
NG_008885.1:g.69873_69874insCAAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3717_3718insCAAGCA	ENSP00000453246.2:p.Val1239_Ile1240insGlnAla
ENST00000682065.1:c.3717_3718insCAAGCA	ENSP00000507025.1:p.Val1239_Ile1240insGlnAla
ENST00000682460.1:c.*137_*138insCAAGCA	ENSP00000508334.1:n.*137_*138insCAAGCA
ENST00000682495.1:c.*209_*210insCAAGCA	ENSP00000507166.1:n.*209_*210insCAAGCA
ENST00000682669.1:c.3516_3517insCAAGCA	ENSP00000507782.1:p.Val1172_Ile1173insGlnAla
ENST00000682788.1:c.3717_3718insCAAGCA	ENSP00000508089.1:p.Val1239_Ile1240insGlnAla
ENST00000682915.1:c.3810_3811insCAAGCA	ENSP00000507493.1:n.3810_3811insCAAGCA
ENST00000683121.1:c.3717_3718insCAAGCA	ENSP00000507557.1:p.Val1239_Ile1240insGlnAla
ENST00000683186.1:c.*480_*481insCAAGCA	ENSP00000507268.1:n.*480_*481insCAAGCA
ENST00000683496.1:c.3717_3718insCAAGCA	ENSP00000506968.1:p.Val1239_Ile1240insGlnAla
ENST00000683734.1:c.3717_3718insCAAGCA	ENSP00000508319.1:p.Val1239_Ile1240insGlnAla
ENST00000683753.1:n.2763_2764insCAAGCA
ENST00000683838.1:n.791_792insCAAGCA
ENST00000684038.1:c.*137_*138insCAAGCA	ENSP00000507141.1:n.*137_*138insCAAGCA
ENST00000684235.1:c.3717_3718insCAAGCA	ENSP00000508295.1:p.Val1239_Ile1240insGlnAla
ENST00000684676.1:c.3717_3718insCAAGCA	ENSP00000506948.1:p.Val1239_Ile1240insGlnAla
ENST00000261866.12:c.3717_3718insCAAGCA MANE Select	ENSP00000261866.7:p.Val1239_Ile1240insGlnAla
ENST00000261866.11:c.3717_3718insCAAGCA	ENSP00000261866.7:p.Val1239_Ile1240insGlnAla
ENST00000427534.6:c.3717_3718insCAAGCA	ENSP00000396110.2:p.Val1239_Ile1240insGlnAla
ENST00000535302.6:c.3717_3718insCAAGCA	ENSP00000445278.2:p.Val1239_Ile1240insGlnAla
ENST00000558093.1:n.331_332insCAAGCA
ENST00000558319.5:c.3717_3718insCAAGCA	ENSP00000453599.1:p.Val1239_Ile1240insGlnAla
NM_001160227.1:c.3717_3718insCAAGCA	NP_001153699.1:p.Val1239_Ile1240insGlnAla
NM_025137.3:c.3717_3718insCAAGCA	NP_079413.3:p.Val1239_Ile1240insGlnAla
XM_005254695.3:c.3459_3460insCAAGCA	XP_005254752.1:p.Val1153_Ile1154insGlnAla
XM_006720700.1:c.3717_3718insCAAGCA	XP_006720763.1:p.Val1239_Ile1240insGlnAla
XM_006720701.2:c.3717_3718insCAAGCA	XP_006720764.1:p.Val1239_Ile1240insGlnAla
XM_011522093.1:c.3687-433_3687-432insCAAGCA	XP_011520395.1:n.3687-433_3687-432insCAAGCA
XR_931917.1:n.3748_3749insCAAGCA
XM_006720701.3:c.3717_3718insCAAGCA	XP_006720764.1:p.Val1239_Ile1240insGlnAla
XM_017022634.1:c.3717_3718insCAAGCA	XP_016878123.1:p.Val1239_Ile1240insGlnAla
XM_017022635.2:c.3717_3718insCAAGCA	XP_016878124.1:p.Val1239_Ile1240insGlnAla
XM_017022636.1:c.594_595insCAAGCA	XP_016878125.1:p.Val198_Ile199insGlnAla
XR_001751402.1:n.3718-433_3718-432insCAAGCA
XR_931917.2:n.3748_3749insCAAGCA
NM_025137.4:c.3717_3718insCAAGCA MANE Select	NP_079413.3:p.Val1239_Ile1240insGlnAla
NM_001160227.2:c.3717_3718insCAAGCA	NP_001153699.1:p.Val1239_Ile1240insGlnAla