Canonical Allele Identifier: CA2628205666

Gene: SPG11

Linked Data

• gnomAD v4: 15-44598806-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598808_44598809del , CM000677.2:g.44598808_44598809del	GRCh38
NC_000015.9:g.44891006_44891007del , CM000677.1:g.44891006_44891007del	GRCh37
NC_000015.8:g.42678298_42678299del	NCBI36
NG_008885.1:g.69871_69872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3715_3716del	ENSP00000453246.2:p.Val1239TyrfsTer25
ENST00000682065.1:c.3715_3716del	ENSP00000507025.1:p.Val1239TyrfsTer25
ENST00000682460.1:c.*135_*136del	ENSP00000508334.1:n.*135_*136del
ENST00000682495.1:c.*207_*208del	ENSP00000507166.1:n.*207_*208del
ENST00000682669.1:c.3514_3515del	ENSP00000507782.1:p.Val1172TyrfsTer25
ENST00000682788.1:c.3715_3716del	ENSP00000508089.1:p.Val1239TyrfsTer25
ENST00000682915.1:c.3808_3809del	ENSP00000507493.1:n.3808_3809del
ENST00000683121.1:c.3715_3716del	ENSP00000507557.1:p.Val1239TyrfsTer25
ENST00000683186.1:c.*478_*479del	ENSP00000507268.1:n.*478_*479del
ENST00000683496.1:c.3715_3716del	ENSP00000506968.1:p.Val1239TyrfsTer25
ENST00000683734.1:c.3715_3716del	ENSP00000508319.1:p.Val1239TyrfsTer25
ENST00000683753.1:n.2761_2762del
ENST00000683838.1:n.789_790del
ENST00000684038.1:c.*135_*136del	ENSP00000507141.1:n.*135_*136del
ENST00000684235.1:c.3715_3716del	ENSP00000508295.1:p.Val1239TyrfsTer25
ENST00000684676.1:c.3715_3716del	ENSP00000506948.1:p.Val1239TyrfsTer25
ENST00000261866.12:c.3715_3716del MANE Select	ENSP00000261866.7:p.Val1239TyrfsTer25
ENST00000261866.11:c.3715_3716del	ENSP00000261866.7:p.Val1239TyrfsTer25
ENST00000427534.6:c.3715_3716del	ENSP00000396110.2:p.Val1239TyrfsTer25
ENST00000535302.6:c.3715_3716del	ENSP00000445278.2:p.Val1239TyrfsTer25
ENST00000558093.1:n.329_330del
ENST00000558319.5:c.3715_3716del	ENSP00000453599.1:p.Val1239TyrfsTer25
NM_001160227.1:c.3715_3716del	NP_001153699.1:p.Val1239TyrfsTer25
NM_025137.3:c.3715_3716del	NP_079413.3:p.Val1239TyrfsTer25
XM_005254695.3:c.3457_3458del	XP_005254752.1:p.Val1153TyrfsTer25
XM_006720700.1:c.3715_3716del	XP_006720763.1:p.Val1239TyrfsTer25
XM_006720701.2:c.3715_3716del	XP_006720764.1:p.Val1239TyrfsTer25
XM_011522093.1:c.3687-435_3687-434del	XP_011520395.1:n.3687-435_3687-434del
XR_931917.1:n.3746_3747del
XM_006720701.3:c.3715_3716del	XP_006720764.1:p.Val1239TyrfsTer25
XM_017022634.1:c.3715_3716del	XP_016878123.1:p.Val1239TyrfsTer25
XM_017022635.2:c.3715_3716del	XP_016878124.1:p.Val1239TyrfsTer25
XM_017022636.1:c.592_593del	XP_016878125.1:p.Val198TyrfsTer25
XR_001751402.1:n.3718-435_3718-434del
XR_931917.2:n.3746_3747del
NM_025137.4:c.3715_3716del MANE Select	NP_079413.3:p.Val1239TyrfsTer25
NM_001160227.2:c.3715_3716del	NP_001153699.1:p.Val1239TyrfsTer25