Canonical Allele Identifier: CA344338

Gene: SPG11

Linked Data

• ClinVar Variation Id: 41310
• ClinVar RCV Id: RCV000034211
• dbSNP Id: rs312262756
• MyVariant Identifiers: chr15:g.44891001_44891002del (hg19) ; chr15:g.44598803_44598804del (hg38)
• PubMed: PMID:18835492 ; PMID:20301389

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598805_44598806del , CM000677.2:g.44598805_44598806del	GRCh38
NC_000015.9:g.44891003_44891004del , CM000677.1:g.44891003_44891004del	GRCh37
NC_000015.8:g.42678295_42678296del	NCBI36
NG_008885.1:g.69875_69876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3719_3720del	ENSP00000453246.2:p.Ile1240ArgfsTer24
ENST00000682065.1:c.3719_3720del	ENSP00000507025.1:p.Ile1240ArgfsTer24
ENST00000682460.1:c.*139_*140del	ENSP00000508334.1:n.*139_*140del
ENST00000682495.1:c.*211_*212del	ENSP00000507166.1:n.*211_*212del
ENST00000682669.1:c.3518_3519del	ENSP00000507782.1:p.Ile1173ArgfsTer24
ENST00000682788.1:c.3719_3720del	ENSP00000508089.1:p.Ile1240ArgfsTer24
ENST00000682915.1:c.3812_3813del	ENSP00000507493.1:n.3812_3813del
ENST00000683121.1:c.3719_3720del	ENSP00000507557.1:p.Ile1240ArgfsTer24
ENST00000683186.1:c.*482_*483del	ENSP00000507268.1:n.*482_*483del
ENST00000683496.1:c.3719_3720del	ENSP00000506968.1:p.Ile1240ArgfsTer24
ENST00000683734.1:c.3719_3720del	ENSP00000508319.1:p.Ile1240ArgfsTer24
ENST00000683753.1:n.2765_2766del
ENST00000683838.1:n.793_794del
ENST00000684038.1:c.*139_*140del	ENSP00000507141.1:n.*139_*140del
ENST00000684235.1:c.3719_3720del	ENSP00000508295.1:p.Ile1240ArgfsTer24
ENST00000684676.1:c.3719_3720del	ENSP00000506948.1:p.Ile1240ArgfsTer24
ENST00000261866.12:c.3719_3720del MANE Select	ENSP00000261866.7:p.Ile1240ArgfsTer24
ENST00000261866.11:c.3719_3720del	ENSP00000261866.7:p.Ile1240ArgfsTer24
ENST00000427534.6:c.3719_3720del	ENSP00000396110.2:p.Ile1240ArgfsTer24
ENST00000535302.6:c.3719_3720del	ENSP00000445278.2:p.Ile1240ArgfsTer24
ENST00000558093.1:n.333_334del
ENST00000558319.5:c.3719_3720del	ENSP00000453599.1:p.Ile1240ArgfsTer24
NM_001160227.1:c.3719_3720del	NP_001153699.1:p.Ile1240ArgfsTer24
NM_025137.3:c.3719_3720del	NP_079413.3:p.Ile1240ArgfsTer24
XM_005254695.3:c.3461_3462del	XP_005254752.1:p.Ile1154ArgfsTer24
XM_006720700.1:c.3719_3720del	XP_006720763.1:p.Ile1240ArgfsTer24
XM_006720701.2:c.3719_3720del	XP_006720764.1:p.Ile1240ArgfsTer24
XM_011522093.1:c.3687-431_3687-430del	XP_011520395.1:n.3687-431_3687-430del
XR_931917.1:n.3750_3751del
XM_006720701.3:c.3719_3720del	XP_006720764.1:p.Ile1240ArgfsTer24
XM_017022634.1:c.3719_3720del	XP_016878123.1:p.Ile1240ArgfsTer24
XM_017022635.2:c.3719_3720del	XP_016878124.1:p.Ile1240ArgfsTer24
XM_017022636.1:c.596_597del	XP_016878125.1:p.Ile199ArgfsTer24
XR_001751402.1:n.3718-431_3718-430del
XR_931917.2:n.3750_3751del
NM_025137.4:c.3719_3720del MANE Select	NP_079413.3:p.Ile1240ArgfsTer24
NM_001160227.2:c.3719_3720del	NP_001153699.1:p.Ile1240ArgfsTer24