Canonical Allele Identifier: CA2541753955
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584596_44584597insGGATAAAGAAGTATCATATACATTAAGTTATAAGTAAAGATAAATGTGA , CM000677.2:g.44584596_44584597insGGATAAAGAAGTATCATATACATTAAGTTATAAGTAAAGATAAATGTGA GRCh38
NC_000015.9:g.44876794_44876795insGGATAAAGAAGTATCATATACATTAAGTTATAAGTAAAGATAAATGTGA , CM000677.1:g.44876794_44876795insGGATAAAGAAGTATCATATACATTAAGTTATAAGTAAAGATAAATGTGA GRCh37
NC_000015.8:g.42664086_42664087insGGATAAAGAAGTATCATATACATTAAGTTATAAGTAAAGATAAATGTGA NCBI36
NG_008885.1:g.84082_84083insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000453246.2:n.5122-39_5122-38insTCACATTTATCTTTACTTATAAC...
ENST00000561391.2:n.1350-39_1350-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC
ENST00000682065.1:c.5122-183_5122-182insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000507025.1:n.5122-183_5122-182insTCACATTTATCTTTACTTATA...
ENST00000682460.1:c.*1379-39_*1379-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000508334.1:n.*1379-39_*1379-38insTCACATTTATCTTTACTTATA...
ENST00000682495.1:c.*1614-39_*1614-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000507166.1:n.*1614-39_*1614-38insTCACATTTATCTTTACTTATA...
ENST00000682669.1:c.4921-39_4921-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000507782.1:n.4921-39_4921-38insTCACATTTATCTTTACTTATAAC...
ENST00000683186.1:c.*1885-39_*1885-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000507268.1:n.*1885-39_*1885-38insTCACATTTATCTTTACTTATA...
ENST00000683496.1:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000506968.1:n.5122-39_5122-38insTCACATTTATCTTTACTTATAAC...
ENST00000683734.1:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000508319.1:n.5122-39_5122-38insTCACATTTATCTTTACTTATAAC...
ENST00000683753.1:n.4168-39_4168-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC
ENST00000684038.1:c.*1542-39_*1542-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000507141.1:n.*1542-39_*1542-38insTCACATTTATCTTTACTTATA...
ENST00000684235.1:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000508295.1:n.5122-39_5122-38insTCACATTTATCTTTACTTATAAC...
ENST00000684676.1:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000506948.1:n.5122-39_5122-38insTCACATTTATCTTTACTTATAAC...
ENST00000261866.12:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC MANE Select ENSP00000261866.7:n.5122-39_5122-38insTCACATTTATCTTTACTTATAAC...
ENST00000261866.11:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000261866.7:n.5122-39_5122-38insTCACATTTATCTTTACTTATAAC...
ENST00000427534.6:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000396110.2:n.5122-39_5122-38insTCACATTTATCTTTACTTATAAC...
ENST00000535302.6:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000445278.2:n.5122-39_5122-38insTCACATTTATCTTTACTTATAAC...
ENST00000558319.5:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC ENSP00000453599.1:n.5122-39_5122-38insTCACATTTATCTTTACTTATAAC...
ENST00000558790.5:n.559-39_559-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC
NM_001160227.1:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC NP_001153699.1:n.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTA...
NM_025137.3:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC NP_079413.3:n.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATG...
XM_005254695.3:c.4864-39_4864-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC XP_005254752.1:n.4864-39_4864-38insTCACATTTATCTTTACTTATAACTTA...
XM_006720700.1:c.5122-183_5122-182insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC XP_006720763.1:n.5122-183_5122-182insTCACATTTATCTTTACTTATAACT...
XM_017022634.1:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC XP_016878123.1:n.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTA...
XM_017022636.1:c.1999-39_1999-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC XP_016878125.1:n.1999-39_1999-38insTCACATTTATCTTTACTTATAACTTA...
XR_931917.2:n.5176-39_5176-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC
NM_025137.4:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC MANE Select NP_079413.3:n.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATG...
NM_001160227.2:c.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTAATGTATATGATACTTCTTTATCC NP_001153699.1:n.5122-39_5122-38insTCACATTTATCTTTACTTATAACTTA...