Canonical Allele Identifier: CA2628203077

Gene: SPG11

Linked Data

• gnomAD v4: 15-44575168-G-GGACCACTGCTGACAGGGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44575169_44575188dup , CM000677.2:g.44575169_44575188dup	GRCh38
NC_000015.9:g.44867367_44867386dup , CM000677.1:g.44867367_44867386dup	GRCh37
NC_000015.8:g.42654659_42654678dup	NCBI36
NG_008885.1:g.93491_93510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4530_5867-4511dup	ENSP00000453246.2:n.5867-4530_5867-4511dup
ENST00000561391.2:n.2095-147_2095-128dup
ENST00000682065.1:c.5723-147_5723-128dup	ENSP00000507025.1:n.5723-147_5723-128dup
ENST00000682460.1:c.*2124-147_*2124-128dup	ENSP00000508334.1:n.*2124-147_*2124-128dup
ENST00000682495.1:c.*2359-147_*2359-128dup	ENSP00000507166.1:n.*2359-147_*2359-128dup
ENST00000682669.1:c.5666-147_5666-128dup	ENSP00000507782.1:n.5666-147_5666-128dup
ENST00000683186.1:c.*2630-147_*2630-128dup	ENSP00000507268.1:n.*2630-147_*2630-128dup
ENST00000683496.1:c.5867-147_5867-128dup	ENSP00000506968.1:n.5867-147_5867-128dup
ENST00000683734.1:c.5867-1443_5867-1424dup	ENSP00000508319.1:n.5867-1443_5867-1424dup
ENST00000683753.1:n.4913-147_4913-128dup
ENST00000684038.1:c.*2287-147_*2287-128dup	ENSP00000507141.1:n.*2287-147_*2287-128dup
ENST00000684235.1:c.5867-147_5867-128dup	ENSP00000508295.1:n.5867-147_5867-128dup
ENST00000684676.1:c.*16-147_*16-128dup	ENSP00000506948.1:n.*16-147_*16-128dup
ENST00000261866.12:c.5867-147_5867-128dup MANE Select	ENSP00000261866.7:n.5867-147_5867-128dup
ENST00000261866.11:c.5867-147_5867-128dup	ENSP00000261866.7:n.5867-147_5867-128dup
ENST00000427534.6:c.5867-147_5867-128dup	ENSP00000396110.2:n.5867-147_5867-128dup
ENST00000535302.6:c.5867-2368_5867-2349dup	ENSP00000445278.2:n.5867-2368_5867-2349dup
ENST00000558080.1:n.85_104dup
ENST00000558319.5:c.5867-147_5867-128dup	ENSP00000453599.1:n.5867-147_5867-128dup
ENST00000559511.5:c.715-4530_715-4511dup
ENST00000559822.1:c.410-147_410-128dup
NM_001160227.1:c.5867-2368_5867-2349dup	NP_001153699.1:n.5867-2368_5867-2349dup
NM_025137.3:c.5867-147_5867-128dup	NP_079413.3:n.5867-147_5867-128dup
XM_005254695.3:c.5609-147_5609-128dup	XP_005254752.1:n.5609-147_5609-128dup
XM_006720700.1:c.5723-147_5723-128dup	XP_006720763.1:n.5723-147_5723-128dup
XM_017022634.1:c.5867-147_5867-128dup	XP_016878123.1:n.5867-147_5867-128dup
XM_017022636.1:c.2744-147_2744-128dup	XP_016878125.1:n.2744-147_2744-128dup
NM_025137.4:c.5867-147_5867-128dup MANE Select	NP_079413.3:n.5867-147_5867-128dup
NM_001160227.2:c.5867-2368_5867-2349dup	NP_001153699.1:n.5867-2368_5867-2349dup