Canonical Allele Identifier: CA2628205655

Gene: SPG11

Linked Data

• gnomAD v4: 15-44598714-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598717_44598718del , CM000677.2:g.44598717_44598718del	GRCh38
NC_000015.9:g.44890915_44890916del , CM000677.1:g.44890915_44890916del	GRCh37
NC_000015.8:g.42678207_42678208del	NCBI36
NG_008885.1:g.69963_69964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3807_3808del	ENSP00000453246.2:p.Arg1269SerfsTer2
ENST00000682065.1:c.3807_3808del	ENSP00000507025.1:p.Arg1269SerfsTer2
ENST00000682460.1:c.*227_*228del	ENSP00000508334.1:n.*227_*228del
ENST00000682495.1:c.*299_*300del	ENSP00000507166.1:n.*299_*300del
ENST00000682669.1:c.3606_3607del	ENSP00000507782.1:p.Arg1202SerfsTer2
ENST00000682788.1:c.3807_3808del	ENSP00000508089.1:p.Arg1269SerfsTer2
ENST00000682915.1:c.3900_3901del	ENSP00000507493.1:n.3900_3901del
ENST00000683121.1:c.3807_3808del	ENSP00000507557.1:p.Arg1269SerfsTer2
ENST00000683186.1:c.*570_*571del	ENSP00000507268.1:n.*570_*571del
ENST00000683496.1:c.3807_3808del	ENSP00000506968.1:p.Arg1269SerfsTer2
ENST00000683734.1:c.3807_3808del	ENSP00000508319.1:p.Arg1269SerfsTer2
ENST00000683753.1:n.2853_2854del
ENST00000683838.1:n.881_882del
ENST00000684038.1:c.*227_*228del	ENSP00000507141.1:n.*227_*228del
ENST00000684235.1:c.3807_3808del	ENSP00000508295.1:p.Arg1269SerfsTer2
ENST00000684676.1:c.3807_3808del	ENSP00000506948.1:p.Arg1269SerfsTer2
ENST00000261866.12:c.3807_3808del MANE Select	ENSP00000261866.7:p.Arg1269SerfsTer2
ENST00000261866.11:c.3807_3808del	ENSP00000261866.7:p.Arg1269SerfsTer2
ENST00000427534.6:c.3807_3808del	ENSP00000396110.2:p.Arg1269SerfsTer2
ENST00000535302.6:c.3807_3808del	ENSP00000445278.2:p.Arg1269SerfsTer2
ENST00000558093.1:n.421_422del
ENST00000558319.5:c.3807_3808del	ENSP00000453599.1:p.Arg1269SerfsTer2
NM_001160227.1:c.3807_3808del	NP_001153699.1:p.Arg1269SerfsTer2
NM_025137.3:c.3807_3808del	NP_079413.3:p.Arg1269SerfsTer2
XM_005254695.3:c.3549_3550del	XP_005254752.1:p.Arg1183SerfsTer2
XM_006720700.1:c.3807_3808del	XP_006720763.1:p.Arg1269SerfsTer2
XM_006720701.2:c.3807_3808del	XP_006720764.1:p.Arg1269SerfsTer2
XM_011522093.1:c.3687-343_3687-342del	XP_011520395.1:n.3687-343_3687-342del
XR_931917.1:n.3838_3839del
XM_006720701.3:c.3807_3808del	XP_006720764.1:p.Arg1269SerfsTer2
XM_017022634.1:c.3807_3808del	XP_016878123.1:p.Arg1269SerfsTer2
XM_017022635.2:c.3807_3808del	XP_016878124.1:p.Arg1269SerfsTer2
XM_017022636.1:c.684_685del	XP_016878125.1:p.Arg228SerfsTer2
XR_001751402.1:n.3718-343_3718-342del
XR_931917.2:n.3838_3839del
NM_025137.4:c.3807_3808del MANE Select	NP_079413.3:p.Arg1269SerfsTer2
NM_001160227.2:c.3807_3808del	NP_001153699.1:p.Arg1269SerfsTer2