Canonical Allele Identifier: CA2628205668

Gene: SPG11

Linked Data

• gnomAD v4: 15-44598808-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598810_44598811del , CM000677.2:g.44598810_44598811del	GRCh38
NC_000015.9:g.44891008_44891009del , CM000677.1:g.44891008_44891009del	GRCh37
NC_000015.8:g.42678300_42678301del	NCBI36
NG_008885.1:g.69869_69870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3713_3714del	ENSP00000453246.2:p.Tyr1238CysfsTer26
ENST00000682065.1:c.3713_3714del	ENSP00000507025.1:p.Tyr1238CysfsTer26
ENST00000682460.1:c.*133_*134del	ENSP00000508334.1:n.*133_*134del
ENST00000682495.1:c.*205_*206del	ENSP00000507166.1:n.*205_*206del
ENST00000682669.1:c.3512_3513del	ENSP00000507782.1:p.Tyr1171CysfsTer26
ENST00000682788.1:c.3713_3714del	ENSP00000508089.1:p.Tyr1238CysfsTer26
ENST00000682915.1:c.3806_3807del	ENSP00000507493.1:n.3806_3807del
ENST00000683121.1:c.3713_3714del	ENSP00000507557.1:p.Tyr1238CysfsTer26
ENST00000683186.1:c.*476_*477del	ENSP00000507268.1:n.*476_*477del
ENST00000683496.1:c.3713_3714del	ENSP00000506968.1:p.Tyr1238CysfsTer26
ENST00000683734.1:c.3713_3714del	ENSP00000508319.1:p.Tyr1238CysfsTer26
ENST00000683753.1:n.2759_2760del
ENST00000683838.1:n.787_788del
ENST00000684038.1:c.*133_*134del	ENSP00000507141.1:n.*133_*134del
ENST00000684235.1:c.3713_3714del	ENSP00000508295.1:p.Tyr1238CysfsTer26
ENST00000684676.1:c.3713_3714del	ENSP00000506948.1:p.Tyr1238CysfsTer26
ENST00000261866.12:c.3713_3714del MANE Select	ENSP00000261866.7:p.Tyr1238CysfsTer26
ENST00000261866.11:c.3713_3714del	ENSP00000261866.7:p.Tyr1238CysfsTer26
ENST00000427534.6:c.3713_3714del	ENSP00000396110.2:p.Tyr1238CysfsTer26
ENST00000535302.6:c.3713_3714del	ENSP00000445278.2:p.Tyr1238CysfsTer26
ENST00000558093.1:n.327_328del
ENST00000558319.5:c.3713_3714del	ENSP00000453599.1:p.Tyr1238CysfsTer26
NM_001160227.1:c.3713_3714del	NP_001153699.1:p.Tyr1238CysfsTer26
NM_025137.3:c.3713_3714del	NP_079413.3:p.Tyr1238CysfsTer26
XM_005254695.3:c.3455_3456del	XP_005254752.1:p.Tyr1152CysfsTer26
XM_006720700.1:c.3713_3714del	XP_006720763.1:p.Tyr1238CysfsTer26
XM_006720701.2:c.3713_3714del	XP_006720764.1:p.Tyr1238CysfsTer26
XM_011522093.1:c.3687-437_3687-436del	XP_011520395.1:n.3687-437_3687-436del
XR_931917.1:n.3744_3745del
XM_006720701.3:c.3713_3714del	XP_006720764.1:p.Tyr1238CysfsTer26
XM_017022634.1:c.3713_3714del	XP_016878123.1:p.Tyr1238CysfsTer26
XM_017022635.2:c.3713_3714del	XP_016878124.1:p.Tyr1238CysfsTer26
XM_017022636.1:c.590_591del	XP_016878125.1:p.Tyr197CysfsTer26
XR_001751402.1:n.3718-437_3718-436del
XR_931917.2:n.3744_3745del
NM_025137.4:c.3713_3714del MANE Select	NP_079413.3:p.Tyr1238CysfsTer26
NM_001160227.2:c.3713_3714del	NP_001153699.1:p.Tyr1238CysfsTer26