Canonical Allele Identifier: CA2173690200

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574865_44574867delinsCCT , CM000677.2:g.44574865_44574867delinsCCT	GRCh38
NC_000015.9:g.44867063_44867065delinsCCT , CM000677.1:g.44867063_44867065delinsCCT	GRCh37
NC_000015.8:g.42654355_42654357delinsCCT	NCBI36
NG_008885.1:g.93812_93814delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5867-4209_5867-4207delinsAGG	ENSP00000453246.2:n.5867-4209_5867-4207de...
ENST00000561391.2:n.2234+35_2234+37delinsAGG
ENST00000682065.1:c.5862+35_5862+37delinsAGG	ENSP00000507025.1:n.5862+35_5862+37delins...
ENST00000682460.1:c.*2263+35_*2263+37delinsAGG	ENSP00000508334.1:n.*2263+35_*2263+37deli...
ENST00000682495.1:c.*2498+35_*2498+37delinsAGG	ENSP00000507166.1:n.*2498+35_*2498+37deli...
ENST00000682669.1:c.5805+35_5805+37delinsAGG	ENSP00000507782.1:n.5805+35_5805+37delins...
ENST00000683186.1:c.*2769+35_*2769+37delinsAGG	ENSP00000507268.1:n.*2769+35_*2769+37deli...
ENST00000683496.1:c.6006+35_6006+37delinsAGG	ENSP00000506968.1:n.6006+35_6006+37delins...
ENST00000683734.1:c.5867-1122_5867-1120delinsAGG	ENSP00000508319.1:n.5867-1122_5867-1120de...
ENST00000683753.1:n.5052+35_5052+37delinsAGG
ENST00000684038.1:c.*2426+35_*2426+37delinsAGG	ENSP00000507141.1:n.*2426+35_*2426+37deli...
ENST00000684235.1:c.6006+35_6006+37delinsAGG	ENSP00000508295.1:n.6006+35_6006+37delins...
ENST00000684676.1:c.*155+35_*155+37delinsAGG	ENSP00000506948.1:n.*155+35_*155+37delins...
ENST00000261866.12:c.6006+35_6006+37delinsAGG MANE Select	ENSP00000261866.7:n.6006+35_6006+37delins...
ENST00000261866.11:c.6006+35_6006+37delinsAGG	ENSP00000261866.7:n.6006+35_6006+37delins...
ENST00000427534.6:c.6006+35_6006+37delinsAGG	ENSP00000396110.2:n.6006+35_6006+37delins...
ENST00000535302.6:c.5867-2047_5867-2045delinsAGG	ENSP00000445278.2:n.5867-2047_5867-2045de...
ENST00000558080.1:n.371+35_371+37delinsAGG
ENST00000558319.5:c.6006+35_6006+37delinsAGG	ENSP00000453599.1:n.6006+35_6006+37delins...
ENST00000559511.5:c.715-4209_715-4207delinsAGG
ENST00000559822.1:c.549+35_549+37delinsAGG
NM_001160227.1:c.5867-2047_5867-2045delinsAGG	NP_001153699.1:n.5867-2047_5867-2045delin...
NM_025137.3:c.6006+35_6006+37delinsAGG	NP_079413.3:n.6006+35_6006+37delinsAGG
XM_005254695.3:c.5748+35_5748+37delinsAGG	XP_005254752.1:n.5748+35_5748+37delinsAGG...
XM_006720700.1:c.5862+35_5862+37delinsAGG	XP_006720763.1:n.5862+35_5862+37delinsAGG...
XM_017022634.1:c.6006+35_6006+37delinsAGG	XP_016878123.1:n.6006+35_6006+37delinsAGG...
XM_017022636.1:c.2883+35_2883+37delinsAGG	XP_016878125.1:n.2883+35_2883+37delinsAGG...
NM_025137.4:c.6006+35_6006+37delinsAGG MANE Select	NP_079413.3:n.6006+35_6006+37delinsAGG
NM_001160227.2:c.5867-2047_5867-2045delinsAGG	NP_001153699.1:n.5867-2047_5867-2045delin...