Canonical Allele Identifier: CA2533793672

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574860_44574861insAA , CM000677.2:g.44574860_44574861insAA	GRCh38
NC_000015.9:g.44867058_44867059insAA , CM000677.1:g.44867058_44867059insAA	GRCh37
NC_000015.8:g.42654350_42654351insAA	NCBI36
NG_008885.1:g.93818_93819insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5867-4203_5867-4202insTT	ENSP00000453246.2:n.5867-4203_5867-4202in...
ENST00000561391.2:n.2234+41_2234+42insTT
ENST00000682065.1:c.5862+41_5862+42insTT	ENSP00000507025.1:n.5862+41_5862+42insTT
ENST00000682460.1:c.*2263+41_*2263+42insTT	ENSP00000508334.1:n.*2263+41_*2263+42insT...
ENST00000682495.1:c.*2498+41_*2498+42insTT	ENSP00000507166.1:n.*2498+41_*2498+42insT...
ENST00000682669.1:c.5805+41_5805+42insTT	ENSP00000507782.1:n.5805+41_5805+42insTT
ENST00000683186.1:c.*2769+41_*2769+42insTT	ENSP00000507268.1:n.*2769+41_*2769+42insT...
ENST00000683496.1:c.6006+41_6006+42insTT	ENSP00000506968.1:n.6006+41_6006+42insTT
ENST00000683734.1:c.5867-1116_5867-1115insTT	ENSP00000508319.1:n.5867-1116_5867-1115in...
ENST00000683753.1:n.5052+41_5052+42insTT
ENST00000684038.1:c.*2426+41_*2426+42insTT	ENSP00000507141.1:n.*2426+41_*2426+42insT...
ENST00000684235.1:c.6006+41_6006+42insTT	ENSP00000508295.1:n.6006+41_6006+42insTT
ENST00000684676.1:c.*155+41_*155+42insTT	ENSP00000506948.1:n.*155+41_*155+42insTT
ENST00000261866.12:c.6006+41_6006+42insTT MANE Select	ENSP00000261866.7:n.6006+41_6006+42insTT
ENST00000261866.11:c.6006+41_6006+42insTT	ENSP00000261866.7:n.6006+41_6006+42insTT
ENST00000427534.6:c.6006+41_6006+42insTT	ENSP00000396110.2:n.6006+41_6006+42insTT
ENST00000535302.6:c.5867-2041_5867-2040insTT	ENSP00000445278.2:n.5867-2041_5867-2040in...
ENST00000558080.1:n.371+41_371+42insTT
ENST00000558319.5:c.6006+41_6006+42insTT	ENSP00000453599.1:n.6006+41_6006+42insTT
ENST00000559511.5:c.715-4203_715-4202insTT
ENST00000559822.1:c.549+41_549+42insTT
NM_001160227.1:c.5867-2041_5867-2040insTT	NP_001153699.1:n.5867-2041_5867-2040insTT...
NM_025137.3:c.6006+41_6006+42insTT	NP_079413.3:n.6006+41_6006+42insTT
XM_005254695.3:c.5748+41_5748+42insTT	XP_005254752.1:n.5748+41_5748+42insTT
XM_006720700.1:c.5862+41_5862+42insTT	XP_006720763.1:n.5862+41_5862+42insTT
XM_017022634.1:c.6006+41_6006+42insTT	XP_016878123.1:n.6006+41_6006+42insTT
XM_017022636.1:c.2883+41_2883+42insTT	XP_016878125.1:n.2883+41_2883+42insTT
NM_025137.4:c.6006+41_6006+42insTT MANE Select	NP_079413.3:n.6006+41_6006+42insTT
NM_001160227.2:c.5867-2041_5867-2040insTT	NP_001153699.1:n.5867-2041_5867-2040insTT...