Canonical Allele Identifier: CA2628202226

Gene: SPG11

Linked Data

• gnomAD v4: 15-44584643-TGTTTGGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584644_44584651del , CM000677.2:g.44584644_44584651del	GRCh38
NC_000015.9:g.44876842_44876849del , CM000677.1:g.44876842_44876849del	GRCh37
NC_000015.8:g.42664134_42664141del	NCBI36
NG_008885.1:g.84028_84035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5122-93_5122-86del	ENSP00000453246.2:n.5122-93_5122-86del
ENST00000561391.2:n.1350-93_1350-86del
ENST00000682065.1:c.5122-237_5122-230del	ENSP00000507025.1:n.5122-237_5122-230del
ENST00000682460.1:c.*1379-93_*1379-86del	ENSP00000508334.1:n.*1379-93_*1379-86del
ENST00000682495.1:c.*1614-93_*1614-86del	ENSP00000507166.1:n.*1614-93_*1614-86del
ENST00000682669.1:c.4921-93_4921-86del	ENSP00000507782.1:n.4921-93_4921-86del
ENST00000683186.1:c.*1885-93_*1885-86del	ENSP00000507268.1:n.*1885-93_*1885-86del
ENST00000683496.1:c.5122-93_5122-86del	ENSP00000506968.1:n.5122-93_5122-86del
ENST00000683734.1:c.5122-93_5122-86del	ENSP00000508319.1:n.5122-93_5122-86del
ENST00000683753.1:n.4168-93_4168-86del
ENST00000684038.1:c.*1542-93_*1542-86del	ENSP00000507141.1:n.*1542-93_*1542-86del
ENST00000684235.1:c.5122-93_5122-86del	ENSP00000508295.1:n.5122-93_5122-86del
ENST00000684676.1:c.5122-93_5122-86del	ENSP00000506948.1:n.5122-93_5122-86del
ENST00000261866.12:c.5122-93_5122-86del MANE Select	ENSP00000261866.7:n.5122-93_5122-86del
ENST00000261866.11:c.5122-93_5122-86del	ENSP00000261866.7:n.5122-93_5122-86del
ENST00000427534.6:c.5122-93_5122-86del	ENSP00000396110.2:n.5122-93_5122-86del
ENST00000535302.6:c.5122-93_5122-86del	ENSP00000445278.2:n.5122-93_5122-86del
ENST00000558319.5:c.5122-93_5122-86del	ENSP00000453599.1:n.5122-93_5122-86del
ENST00000558790.5:n.559-93_559-86del
NM_001160227.1:c.5122-93_5122-86del	NP_001153699.1:n.5122-93_5122-86del
NM_025137.3:c.5122-93_5122-86del	NP_079413.3:n.5122-93_5122-86del
XM_005254695.3:c.4864-93_4864-86del	XP_005254752.1:n.4864-93_4864-86del
XM_006720700.1:c.5122-237_5122-230del	XP_006720763.1:n.5122-237_5122-230del
XM_017022634.1:c.5122-93_5122-86del	XP_016878123.1:n.5122-93_5122-86del
XM_017022636.1:c.1999-93_1999-86del	XP_016878125.1:n.1999-93_1999-86del
XR_931917.2:n.5176-93_5176-86del
NM_025137.4:c.5122-93_5122-86del MANE Select	NP_079413.3:n.5122-93_5122-86del
NM_001160227.2:c.5122-93_5122-86del	NP_001153699.1:n.5122-93_5122-86del