Canonical Allele Identifier: CA2628203055

Gene: SPG11

Linked Data

• gnomAD v4: 15-44575151-T-TCAGAGTAATGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44575151_44575152insCAGAGTAATGGG , CM000677.2:g.44575151_44575152insCAGAGTAATGGG	GRCh38
NC_000015.9:g.44867349_44867350insCAGAGTAATGGG , CM000677.1:g.44867349_44867350insCAGAGTAATGGG	GRCh37
NC_000015.8:g.42654641_42654642insCAGAGTAATGGG	NCBI36
NG_008885.1:g.93527_93528insCCCATTACTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4494_5867-4493insCCCATTACTCTG	ENSP00000453246.2:n.5867-4494_5867-4493insCCCATTACTCTG
ENST00000561391.2:n.2095-111_2095-110insCCCATTACTCTG
ENST00000682065.1:c.5723-111_5723-110insCCCATTACTCTG	ENSP00000507025.1:n.5723-111_5723-110insCCCATTACTCTG
ENST00000682460.1:c.*2124-111_*2124-110insCCCATTACTCTG	ENSP00000508334.1:n.*2124-111_*2124-110insCCCATTACTCTG
ENST00000682495.1:c.*2359-111_*2359-110insCCCATTACTCTG	ENSP00000507166.1:n.*2359-111_*2359-110insCCCATTACTCTG
ENST00000682669.1:c.5666-111_5666-110insCCCATTACTCTG	ENSP00000507782.1:n.5666-111_5666-110insCCCATTACTCTG
ENST00000683186.1:c.*2630-111_*2630-110insCCCATTACTCTG	ENSP00000507268.1:n.*2630-111_*2630-110insCCCATTACTCTG
ENST00000683496.1:c.5867-111_5867-110insCCCATTACTCTG	ENSP00000506968.1:n.5867-111_5867-110insCCCATTACTCTG
ENST00000683734.1:c.5867-1407_5867-1406insCCCATTACTCTG	ENSP00000508319.1:n.5867-1407_5867-1406insCCCATTACTCTG
ENST00000683753.1:n.4913-111_4913-110insCCCATTACTCTG
ENST00000684038.1:c.*2287-111_*2287-110insCCCATTACTCTG	ENSP00000507141.1:n.*2287-111_*2287-110insCCCATTACTCTG
ENST00000684235.1:c.5867-111_5867-110insCCCATTACTCTG	ENSP00000508295.1:n.5867-111_5867-110insCCCATTACTCTG
ENST00000684676.1:c.*16-111_*16-110insCCCATTACTCTG	ENSP00000506948.1:n.*16-111_*16-110insCCCATTACTCTG
ENST00000261866.12:c.5867-111_5867-110insCCCATTACTCTG MANE Select	ENSP00000261866.7:n.5867-111_5867-110insCCCATTACTCTG
ENST00000261866.11:c.5867-111_5867-110insCCCATTACTCTG	ENSP00000261866.7:n.5867-111_5867-110insCCCATTACTCTG
ENST00000427534.6:c.5867-111_5867-110insCCCATTACTCTG	ENSP00000396110.2:n.5867-111_5867-110insCCCATTACTCTG
ENST00000535302.6:c.5867-2332_5867-2331insCCCATTACTCTG	ENSP00000445278.2:n.5867-2332_5867-2331insCCCATTACTCTG
ENST00000558080.1:n.121_122insCCCATTACTCTG
ENST00000558319.5:c.5867-111_5867-110insCCCATTACTCTG	ENSP00000453599.1:n.5867-111_5867-110insCCCATTACTCTG
ENST00000559511.5:c.715-4494_715-4493insCCCATTACTCTG
ENST00000559822.1:c.410-111_410-110insCCCATTACTCTG
NM_001160227.1:c.5867-2332_5867-2331insCCCATTACTCTG	NP_001153699.1:n.5867-2332_5867-2331insCCCATTACTCTG
NM_025137.3:c.5867-111_5867-110insCCCATTACTCTG	NP_079413.3:n.5867-111_5867-110insCCCATTACTCTG
XM_005254695.3:c.5609-111_5609-110insCCCATTACTCTG	XP_005254752.1:n.5609-111_5609-110insCCCATTACTCTG
XM_006720700.1:c.5723-111_5723-110insCCCATTACTCTG	XP_006720763.1:n.5723-111_5723-110insCCCATTACTCTG
XM_017022634.1:c.5867-111_5867-110insCCCATTACTCTG	XP_016878123.1:n.5867-111_5867-110insCCCATTACTCTG
XM_017022636.1:c.2744-111_2744-110insCCCATTACTCTG	XP_016878125.1:n.2744-111_2744-110insCCCATTACTCTG
NM_025137.4:c.5867-111_5867-110insCCCATTACTCTG MANE Select	NP_079413.3:n.5867-111_5867-110insCCCATTACTCTG
NM_001160227.2:c.5867-2332_5867-2331insCCCATTACTCTG	NP_001153699.1:n.5867-2332_5867-2331insCCCATTACTCTG