Canonical Allele Identifier: CA2499222939

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1060634
• ClinVar RCV Id: RCV001370092
• dbSNP Id: rs2140947284

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584366_44584377del , CM000677.2:g.44584366_44584377del	GRCh38
NC_000015.9:g.44876564_44876575del , CM000677.1:g.44876564_44876575del	GRCh37
NC_000015.8:g.42663856_42663867del	NCBI36
NG_008885.1:g.84304_84315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5305_5316del	ENSP00000453246.2:p.Met1769_Arg1772del
ENST00000561391.2:n.1533_1544del
ENST00000682065.1:c.5161_5172del	ENSP00000507025.1:p.Met1721_Arg1724del
ENST00000682460.1:c.*1562_*1573del	ENSP00000508334.1:n.*1562_*1573del
ENST00000682495.1:c.*1797_*1808del	ENSP00000507166.1:n.*1797_*1808del
ENST00000682669.1:c.5104_5115del	ENSP00000507782.1:p.Met1702_Arg1705del
ENST00000683186.1:c.*2068_*2079del	ENSP00000507268.1:n.*2068_*2079del
ENST00000683496.1:c.5305_5316del	ENSP00000506968.1:p.Met1769_Arg1772del
ENST00000683734.1:c.5305_5316del	ENSP00000508319.1:p.Met1769_Arg1772del
ENST00000683753.1:n.4351_4362del
ENST00000684038.1:c.*1725_*1736del	ENSP00000507141.1:n.*1725_*1736del
ENST00000684235.1:c.5305_5316del	ENSP00000508295.1:p.Met1769_Arg1772del
ENST00000684676.1:c.5305_5316del	ENSP00000506948.1:p.Met1769_Arg1772del
ENST00000261866.12:c.5305_5316del MANE Select	ENSP00000261866.7:p.Met1769_Arg1772del
ENST00000261866.11:c.5305_5316del	ENSP00000261866.7:p.Met1769_Arg1772del
ENST00000427534.6:c.5305_5316del	ENSP00000396110.2:p.Met1769_Arg1772del
ENST00000535302.6:c.5305_5316del	ENSP00000445278.2:p.Met1769_Arg1772del
ENST00000558319.5:c.5305_5316del	ENSP00000453599.1:p.Met1769_Arg1772del
ENST00000558790.5:n.742_753del
ENST00000559511.5:c.153_164del
ENST00000559822.1:c.77_88del
NM_001160227.1:c.5305_5316del	NP_001153699.1:p.Met1769_Arg1772del
NM_025137.3:c.5305_5316del	NP_079413.3:p.Met1769_Arg1772del
XM_005254695.3:c.5047_5058del	XP_005254752.1:p.Met1683_Arg1686del
XM_006720700.1:c.5161_5172del	XP_006720763.1:p.Met1721_Arg1724del
XM_017022634.1:c.5305_5316del	XP_016878123.1:p.Met1769_Arg1772del
XM_017022636.1:c.2182_2193del	XP_016878125.1:p.Met728_Arg731del
XR_931917.2:n.5359_5370del
NM_025137.4:c.5305_5316del MANE Select	NP_079413.3:p.Met1769_Arg1772del
NM_001160227.2:c.5305_5316del	NP_001153699.1:p.Met1769_Arg1772del