Canonical Allele Identifier: CA2173685314

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570546_44570553delinsGGGGGCCA , CM000677.2:g.44570546_44570553delinsGGGGGCCA	GRCh38
NC_000015.9:g.44862744_44862751delinsGGGGGCCA , CM000677.1:g.44862744_44862751delinsGGGGGCCA	GRCh37
NC_000015.8:g.42650036_42650043delinsGGGGGCCA	NCBI36
NG_008885.1:g.98126_98133delinsTGGCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.248_255delinsTGGCCCCC	ENSP00000453314.2:p.Leu83=
ENST00000559511.6:c.5972_5979delinsTGGCCCCC	ENSP00000453246.2:p.Leu1991=
ENST00000682065.1:c.6305_6312delinsTGGCCCCC	ENSP00000507025.1:p.Leu2102=
ENST00000682460.1:c.*2706_*2713delinsTGGCCCCC	ENSP00000508334.1:n.*2706_*2713delinsTGGCCCCC
ENST00000682495.1:c.*2941_*2948delinsTGGCCCCC	ENSP00000507166.1:n.*2941_*2948delinsTGGCCCCC
ENST00000682669.1:c.6248_6255delinsTGGCCCCC	ENSP00000507782.1:p.Leu2083=
ENST00000683186.1:c.*3212_*3219delinsTGGCCCCC	ENSP00000507268.1:n.*3212_*3219delinsTGGCCCCC
ENST00000683496.1:c.*91_*98delinsTGGCCCCC	ENSP00000506968.1:n.*91_*98delinsTGGCCCCC
ENST00000683734.1:c.*399_*406delinsTGGCCCCC	ENSP00000508319.1:n.*399_*406delinsTGGCCCCC
ENST00000683753.1:n.5495_5502delinsTGGCCCCC
ENST00000684038.1:c.*2869_*2876delinsTGGCCCCC	ENSP00000507141.1:n.*2869_*2876delinsTGGCCCCC
ENST00000684235.1:c.6449_6456delinsTGGCCCCC	ENSP00000508295.1:p.Leu2150=
ENST00000261866.12:c.6449_6456delinsTGGCCCCC MANE Select	ENSP00000261866.7:p.Leu2150=
ENST00000261866.11:c.6449_6456delinsTGGCCCCC	ENSP00000261866.7:p.Leu2150=
ENST00000427534.6:c.6449_6456delinsTGGCCCCC	ENSP00000396110.2:p.Leu2150=
ENST00000535302.6:c.6110_6117delinsTGGCCCCC	ENSP00000445278.2:p.Leu2037=
ENST00000558138.1:c.248_255delinsTGGCCCCC	ENSP00000453314.1:p.Leu83=
ENST00000559347.1:n.278_285delinsTGGCCCCC
ENST00000559511.5:c.820_827delinsTGGCCCCC
ENST00000561268.5:n.275+2130_275+2137delinsTGGCCCCC
NM_001160227.1:c.6110_6117delinsTGGCCCCC	NP_001153699.1:p.Leu2037=
NM_025137.3:c.6449_6456delinsTGGCCCCC	NP_079413.3:p.Leu2150=
XM_005254695.3:c.6191_6198delinsTGGCCCCC	XP_005254752.1:p.Leu2064=
XM_006720700.1:c.6305_6312delinsTGGCCCCC	XP_006720763.1:p.Leu2102=
XM_017022634.1:c.6449_6456delinsTGGCCCCC	XP_016878123.1:p.Leu2150=
XM_017022636.1:c.3326_3333delinsTGGCCCCC	XP_016878125.1:p.Leu1109=
NM_025137.4:c.6449_6456delinsTGGCCCCC MANE Select	NP_079413.3:p.Leu2150=
NM_001160227.2:c.6110_6117delinsTGGCCCCC	NP_001153699.1:p.Leu2037=