Canonical Allele Identifier: CA2575708335
Gene: SPG11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44570561_44570564del , CM000677.2:g.44570561_44570564del GRCh38
NC_000015.9:g.44862759_44862762del , CM000677.1:g.44862759_44862762del GRCh37
NC_000015.8:g.42650051_42650054del NCBI36
NG_008885.1:g.98116_98119del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558138.2:c.238_241del ENSP00000453314.2:p.Asp80ThrfsTer12
ENST00000559511.6:c.5962_5965del ENSP00000453246.2:p.Asp1988ThrfsTer25
ENST00000682065.1:c.6295_6298del ENSP00000507025.1:p.Asp2099ThrfsTer25
ENST00000682460.1:c.*2696_*2699del ENSP00000508334.1:n.*2696_*2699del
ENST00000682495.1:c.*2931_*2934del ENSP00000507166.1:n.*2931_*2934del
ENST00000682669.1:c.6238_6241del ENSP00000507782.1:p.Asp2080ThrfsTer25
ENST00000683186.1:c.*3202_*3205del ENSP00000507268.1:n.*3202_*3205del
ENST00000683496.1:c.*81_*84del ENSP00000506968.1:n.*81_*84del
ENST00000683734.1:c.*389_*392del ENSP00000508319.1:n.*389_*392del
ENST00000683753.1:n.5485_5488del
ENST00000684038.1:c.*2859_*2862del ENSP00000507141.1:n.*2859_*2862del
ENST00000684235.1:c.6439_6442del ENSP00000508295.1:p.Asp2147ThrfsTer25
ENST00000261866.12:c.6439_6442del MANE Select ENSP00000261866.7:p.Asp2147ThrfsTer25
ENST00000261866.11:c.6439_6442del ENSP00000261866.7:p.Asp2147ThrfsTer25
ENST00000427534.6:c.6439_6442del ENSP00000396110.2:p.Asp2147ThrfsTer25
ENST00000535302.6:c.6100_6103del ENSP00000445278.2:p.Asp2034ThrfsTer25
ENST00000558138.1:c.238_241del ENSP00000453314.1:p.Asp80ThrfsTer12
ENST00000559347.1:n.268_271del
ENST00000559511.5:c.810_813del
ENST00000559933.1:n.508_511del
ENST00000561268.5:n.275+2120_275+2123del
NM_001160227.1:c.6100_6103del NP_001153699.1:p.Asp2034ThrfsTer25
NM_025137.3:c.6439_6442del NP_079413.3:p.Asp2147ThrfsTer25
XM_005254695.3:c.6181_6184del XP_005254752.1:p.Asp2061ThrfsTer25
XM_006720700.1:c.6295_6298del XP_006720763.1:p.Asp2099ThrfsTer25
XM_017022634.1:c.6439_6442del XP_016878123.1:p.Asp2147ThrfsTer12
XM_017022636.1:c.3316_3319del XP_016878125.1:p.Asp1106ThrfsTer25
NM_025137.4:c.6439_6442del MANE Select NP_079413.3:p.Asp2147ThrfsTer25
NM_001160227.2:c.6100_6103del NP_001153699.1:p.Asp2034ThrfsTer25