Canonical Allele Identifier: CA2173690205

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574870_44574872delinsCAG , CM000677.2:g.44574870_44574872delinsCAG	GRCh38
NC_000015.9:g.44867068_44867070delinsCAG , CM000677.1:g.44867068_44867070delinsCAG	GRCh37
NC_000015.8:g.42654360_42654362delinsCAG	NCBI36
NG_008885.1:g.93807_93809delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5867-4214_5867-4212delinsCTG	ENSP00000453246.2:n.5867-4214_5867-4212de...
ENST00000561391.2:n.2234+30_2234+32delinsCTG
ENST00000682065.1:c.5862+30_5862+32delinsCTG	ENSP00000507025.1:n.5862+30_5862+32delins...
ENST00000682460.1:c.*2263+30_*2263+32delinsCTG	ENSP00000508334.1:n.*2263+30_*2263+32deli...
ENST00000682495.1:c.*2498+30_*2498+32delinsCTG	ENSP00000507166.1:n.*2498+30_*2498+32deli...
ENST00000682669.1:c.5805+30_5805+32delinsCTG	ENSP00000507782.1:n.5805+30_5805+32delins...
ENST00000683186.1:c.*2769+30_*2769+32delinsCTG	ENSP00000507268.1:n.*2769+30_*2769+32deli...
ENST00000683496.1:c.6006+30_6006+32delinsCTG	ENSP00000506968.1:n.6006+30_6006+32delins...
ENST00000683734.1:c.5867-1127_5867-1125delinsCTG	ENSP00000508319.1:n.5867-1127_5867-1125de...
ENST00000683753.1:n.5052+30_5052+32delinsCTG
ENST00000684038.1:c.*2426+30_*2426+32delinsCTG	ENSP00000507141.1:n.*2426+30_*2426+32deli...
ENST00000684235.1:c.6006+30_6006+32delinsCTG	ENSP00000508295.1:n.6006+30_6006+32delins...
ENST00000684676.1:c.*155+30_*155+32delinsCTG	ENSP00000506948.1:n.*155+30_*155+32delins...
ENST00000261866.12:c.6006+30_6006+32delinsCTG MANE Select	ENSP00000261866.7:n.6006+30_6006+32delins...
ENST00000261866.11:c.6006+30_6006+32delinsCTG	ENSP00000261866.7:n.6006+30_6006+32delins...
ENST00000427534.6:c.6006+30_6006+32delinsCTG	ENSP00000396110.2:n.6006+30_6006+32delins...
ENST00000535302.6:c.5867-2052_5867-2050delinsCTG	ENSP00000445278.2:n.5867-2052_5867-2050de...
ENST00000558080.1:n.371+30_371+32delinsCTG
ENST00000558319.5:c.6006+30_6006+32delinsCTG	ENSP00000453599.1:n.6006+30_6006+32delins...
ENST00000559511.5:c.715-4214_715-4212delinsCTG
ENST00000559822.1:c.549+30_549+32delinsCTG
NM_001160227.1:c.5867-2052_5867-2050delinsCTG	NP_001153699.1:n.5867-2052_5867-2050delin...
NM_025137.3:c.6006+30_6006+32delinsCTG	NP_079413.3:n.6006+30_6006+32delinsCTG
XM_005254695.3:c.5748+30_5748+32delinsCTG	XP_005254752.1:n.5748+30_5748+32delinsCTG...
XM_006720700.1:c.5862+30_5862+32delinsCTG	XP_006720763.1:n.5862+30_5862+32delinsCTG...
XM_017022634.1:c.6006+30_6006+32delinsCTG	XP_016878123.1:n.6006+30_6006+32delinsCTG...
XM_017022636.1:c.2883+30_2883+32delinsCTG	XP_016878125.1:n.2883+30_2883+32delinsCTG...
NM_025137.4:c.6006+30_6006+32delinsCTG MANE Select	NP_079413.3:n.6006+30_6006+32delinsCTG
NM_001160227.2:c.5867-2052_5867-2050delinsCTG	NP_001153699.1:n.5867-2052_5867-2050delin...