Canonical Allele Identifier: CA7534867

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1436148
• ClinVar RCV Id: RCV001987223
• dbSNP Id: rs766788316
• ExAC: 15:44891042 AGAAAG / A
• gnomAD v2: 15-44891042-AGAAAG-A
• gnomAD v3: 15-44598844-AGAAAG-A
• gnomAD v4: 15-44598844-AGAAAG-A
• MyVariant Identifiers: chr15:g.44891043_44891047del (hg19) ; chr15:g.44598845_44598849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598848_44598852del , CM000677.2:g.44598848_44598852del	GRCh38
NC_000015.9:g.44891046_44891050del , CM000677.1:g.44891046_44891050del	GRCh37
NC_000015.8:g.42678338_42678342del	NCBI36
NG_008885.1:g.69830_69834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3687-13_3687-9del	ENSP00000453246.2:n.3687-13_3687-9del
ENST00000682065.1:c.3687-13_3687-9del	ENSP00000507025.1:n.3687-13_3687-9del
ENST00000682460.1:c.*107-13_*107-9del	ENSP00000508334.1:n.*107-13_*107-9del
ENST00000682495.1:c.*179-13_*179-9del	ENSP00000507166.1:n.*179-13_*179-9del
ENST00000682669.1:c.3486-13_3486-9del	ENSP00000507782.1:n.3486-13_3486-9del
ENST00000682788.1:c.3687-13_3687-9del	ENSP00000508089.1:n.3687-13_3687-9del
ENST00000682915.1:c.3780-13_3780-9del	ENSP00000507493.1:n.3780-13_3780-9del
ENST00000683121.1:c.3687-13_3687-9del	ENSP00000507557.1:n.3687-13_3687-9del
ENST00000683186.1:c.*450-13_*450-9del	ENSP00000507268.1:n.*450-13_*450-9del
ENST00000683496.1:c.3687-13_3687-9del	ENSP00000506968.1:n.3687-13_3687-9del
ENST00000683734.1:c.3687-13_3687-9del	ENSP00000508319.1:n.3687-13_3687-9del
ENST00000683753.1:n.2733-13_2733-9del
ENST00000683838.1:n.761-13_761-9del
ENST00000684038.1:c.*107-13_*107-9del	ENSP00000507141.1:n.*107-13_*107-9del
ENST00000684235.1:c.3687-13_3687-9del	ENSP00000508295.1:n.3687-13_3687-9del
ENST00000684676.1:c.3687-13_3687-9del	ENSP00000506948.1:n.3687-13_3687-9del
ENST00000261866.12:c.3687-13_3687-9del MANE Select	ENSP00000261866.7:n.3687-13_3687-9del
ENST00000261866.11:c.3687-13_3687-9del	ENSP00000261866.7:n.3687-13_3687-9del
ENST00000427534.6:c.3687-13_3687-9del	ENSP00000396110.2:n.3687-13_3687-9del
ENST00000535302.6:c.3687-13_3687-9del	ENSP00000445278.2:n.3687-13_3687-9del
ENST00000558093.1:n.301-13_301-9del
ENST00000558319.5:c.3687-13_3687-9del	ENSP00000453599.1:n.3687-13_3687-9del
NM_001160227.1:c.3687-13_3687-9del	NP_001153699.1:n.3687-13_3687-9del
NM_025137.3:c.3687-13_3687-9del	NP_079413.3:n.3687-13_3687-9del
XM_005254695.3:c.3429-13_3429-9del	XP_005254752.1:n.3429-13_3429-9del
XM_006720700.1:c.3687-13_3687-9del	XP_006720763.1:n.3687-13_3687-9del
XM_006720701.2:c.3687-13_3687-9del	XP_006720764.1:n.3687-13_3687-9del
XM_011522093.1:c.3687-476_3687-472del	XP_011520395.1:n.3687-476_3687-472del
XR_931917.1:n.3718-13_3718-9del
XM_006720701.3:c.3687-13_3687-9del	XP_006720764.1:n.3687-13_3687-9del
XM_017022634.1:c.3687-13_3687-9del	XP_016878123.1:n.3687-13_3687-9del
XM_017022635.2:c.3687-13_3687-9del	XP_016878124.1:n.3687-13_3687-9del
XM_017022636.1:c.564-13_564-9del	XP_016878125.1:n.564-13_564-9del
XR_001751402.1:n.3718-476_3718-472del
XR_931917.2:n.3718-13_3718-9del
NM_025137.4:c.3687-13_3687-9del MANE Select	NP_079413.3:n.3687-13_3687-9del
NM_001160227.2:c.3687-13_3687-9del	NP_001153699.1:n.3687-13_3687-9del