Canonical Allele Identifier: CA270080660

Gene: SPG11

Linked Data

• dbSNP Id: rs776249389
• gnomAD v4: 15-44584689-T-TGGCGA
• MyVariant Identifiers: chr15:g.44876887_44876888insGGCGA (hg19) ; chr15:g.44584689_44584690insGGCGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584690_44584694dup , CM000677.2:g.44584690_44584694dup	GRCh38
NC_000015.9:g.44876888_44876892dup , CM000677.1:g.44876888_44876892dup	GRCh37
NC_000015.8:g.42664180_42664184dup	NCBI36
NG_008885.1:g.83985_83989dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5122-136_5122-132dup	ENSP00000453246.2:n.5122-136_5122-132dup
ENST00000561391.2:n.1350-136_1350-132dup
ENST00000682065.1:c.5122-280_5122-276dup	ENSP00000507025.1:n.5122-280_5122-276dup
ENST00000682460.1:c.*1379-136_*1379-132dup	ENSP00000508334.1:n.*1379-136_*1379-132dup
ENST00000682495.1:c.*1614-136_*1614-132dup	ENSP00000507166.1:n.*1614-136_*1614-132dup
ENST00000682669.1:c.4921-136_4921-132dup	ENSP00000507782.1:n.4921-136_4921-132dup
ENST00000683186.1:c.*1885-136_*1885-132dup	ENSP00000507268.1:n.*1885-136_*1885-132dup
ENST00000683496.1:c.5122-136_5122-132dup	ENSP00000506968.1:n.5122-136_5122-132dup
ENST00000683734.1:c.5122-136_5122-132dup	ENSP00000508319.1:n.5122-136_5122-132dup
ENST00000683753.1:n.4168-136_4168-132dup
ENST00000684038.1:c.*1542-136_*1542-132dup	ENSP00000507141.1:n.*1542-136_*1542-132dup
ENST00000684235.1:c.5122-136_5122-132dup	ENSP00000508295.1:n.5122-136_5122-132dup
ENST00000684676.1:c.5122-136_5122-132dup	ENSP00000506948.1:n.5122-136_5122-132dup
ENST00000261866.12:c.5122-136_5122-132dup MANE Select	ENSP00000261866.7:n.5122-136_5122-132dup
ENST00000261866.11:c.5122-136_5122-132dup	ENSP00000261866.7:n.5122-136_5122-132dup
ENST00000427534.6:c.5122-136_5122-132dup	ENSP00000396110.2:n.5122-136_5122-132dup
ENST00000535302.6:c.5122-136_5122-132dup	ENSP00000445278.2:n.5122-136_5122-132dup
ENST00000558319.5:c.5122-136_5122-132dup	ENSP00000453599.1:n.5122-136_5122-132dup
ENST00000558790.5:n.559-136_559-132dup
NM_001160227.1:c.5122-136_5122-132dup	NP_001153699.1:n.5122-136_5122-132dup
NM_025137.3:c.5122-136_5122-132dup	NP_079413.3:n.5122-136_5122-132dup
XM_005254695.3:c.4864-136_4864-132dup	XP_005254752.1:n.4864-136_4864-132dup
XM_006720700.1:c.5122-280_5122-276dup	XP_006720763.1:n.5122-280_5122-276dup
XM_017022634.1:c.5122-136_5122-132dup	XP_016878123.1:n.5122-136_5122-132dup
XM_017022636.1:c.1999-136_1999-132dup	XP_016878125.1:n.1999-136_1999-132dup
XR_931917.2:n.5176-136_5176-132dup
NM_025137.4:c.5122-136_5122-132dup MANE Select	NP_079413.3:n.5122-136_5122-132dup
NM_001160227.2:c.5122-136_5122-132dup	NP_001153699.1:n.5122-136_5122-132dup