Canonical Allele Identifier: CA392216142
Community Standard Title: NM_025137.4(SPG11):c.6478-2A>G
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44569507T>C , CM000677.2:g.44569507T>C GRCh38
NC_000015.9:g.44861705T>C , CM000677.1:g.44861705T>C GRCh37
NC_000015.8:g.42648997T>C NCBI36
NG_008885.1:g.99172A>G

Transcript Alleles

HGVS Amino-acid Change
NM_025137.4:c.6478-2A>G MANE Select NP_079413.3:n.6478-2A>G
ENST00000261866.12:c.6478-2A>G MANE Select ENSP00000261866.7:n.6478-2A>G
NM_001160227.1:c.6139-2A>G NP_001153699.1:n.6139-2A>G
NM_001160227.2:c.6139-2A>G NP_001153699.1:n.6139-2A>G
NM_025137.3:c.6478-2A>G NP_079413.3:n.6478-2A>G
ENST00000261866.11:c.6478-2A>G ENSP00000261866.7:n.6478-2A>G
ENST00000427534.6:c.6478-2A>G ENSP00000396110.2:n.6478-2A>G
ENST00000535302.6:c.6139-2A>G ENSP00000445278.2:n.6139-2A>G
ENST00000558138.1:c.276+1018A>G ENSP00000453314.1:n.276+1018A>G
ENST00000558138.2:c.276+1018A>G ENSP00000453314.2:n.276+1018A>G
ENST00000559347.1:n.307-2A>G
ENST00000559511.5:c.849-2A>G
ENST00000559511.6:c.6001-2A>G ENSP00000453246.2:n.6001-2A>G
ENST00000561268.5:n.276-1915A>G
ENST00000682065.1:c.6334-2A>G ENSP00000507025.1:n.6334-2A>G
ENST00000682460.1:c.*2735-2A>G ENSP00000508334.1:n.*2735-2A>G
ENST00000682495.1:c.*2970-2A>G ENSP00000507166.1:n.*2970-2A>G
ENST00000682669.1:c.6277-2A>G ENSP00000507782.1:n.6277-2A>G
ENST00000683186.1:c.*3241-2A>G ENSP00000507268.1:n.*3241-2A>G
ENST00000683496.1:c.*120-2A>G ENSP00000506968.1:n.*120-2A>G
ENST00000683734.1:c.*428-2A>G ENSP00000508319.1:n.*428-2A>G
ENST00000683753.1:n.5524-2A>G
ENST00000684038.1:c.*2898-2A>G ENSP00000507141.1:n.*2898-2A>G
ENST00000684235.1:c.6478-2A>G ENSP00000508295.1:n.6478-2A>G
XM_005254695.3:c.6220-2A>G XP_005254752.1:n.6220-2A>G
XM_006720700.1:c.6334-2A>G XP_006720763.1:n.6334-2A>G
XM_017022634.1:c.6477+1018A>G XP_016878123.1:n.6477+1018A>G
XM_017022636.1:c.3355-2A>G XP_016878125.1:n.3355-2A>G