Canonical Allele Identifier: CA7534285

Gene: SPG11

Linked Data

• dbSNP Id: rs750399620
• ExAC: 15:44867068 CAGAA / C
• gnomAD v2: 15-44867068-CAGAA-C
• gnomAD v3: 15-44574870-CAGAA-C
• gnomAD v4: 15-44574870-CAGAA-C
• MyVariant Identifiers: chr15:g.44867069_44867072del (hg19) ; chr15:g.44574872_44574875del (hg38) ; chr15:g.44574871_44574874del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574874_44574877del , CM000677.2:g.44574874_44574877del	GRCh38
NC_000015.9:g.44867072_44867075del , CM000677.1:g.44867072_44867075del	GRCh37
NC_000015.8:g.42654364_42654367del	NCBI36
NG_008885.1:g.93805_93808del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5867-4216_5867-4213del	ENSP00000453246.2:n.5867-4216_5867-4213de...
ENST00000561391.2:n.2234+28_2234+31del
ENST00000682065.1:c.5862+28_5862+31del	ENSP00000507025.1:n.5862+28_5862+31del
ENST00000682460.1:c.*2263+28_*2263+31del	ENSP00000508334.1:n.*2263+28_*2263+31del
ENST00000682495.1:c.*2498+28_*2498+31del	ENSP00000507166.1:n.*2498+28_*2498+31del
ENST00000682669.1:c.5805+28_5805+31del	ENSP00000507782.1:n.5805+28_5805+31del
ENST00000683186.1:c.*2769+28_*2769+31del	ENSP00000507268.1:n.*2769+28_*2769+31del
ENST00000683496.1:c.6006+28_6006+31del	ENSP00000506968.1:n.6006+28_6006+31del
ENST00000683734.1:c.5867-1129_5867-1126del	ENSP00000508319.1:n.5867-1129_5867-1126de...
ENST00000683753.1:n.5052+28_5052+31del
ENST00000684038.1:c.*2426+28_*2426+31del	ENSP00000507141.1:n.*2426+28_*2426+31del
ENST00000684235.1:c.6006+28_6006+31del	ENSP00000508295.1:n.6006+28_6006+31del
ENST00000684676.1:c.*155+28_*155+31del	ENSP00000506948.1:n.*155+28_*155+31del
ENST00000261866.12:c.6006+28_6006+31del MANE Select	ENSP00000261866.7:n.6006+28_6006+31del
ENST00000261866.11:c.6006+28_6006+31del	ENSP00000261866.7:n.6006+28_6006+31del
ENST00000427534.6:c.6006+28_6006+31del	ENSP00000396110.2:n.6006+28_6006+31del
ENST00000535302.6:c.5867-2054_5867-2051del	ENSP00000445278.2:n.5867-2054_5867-2051de...
ENST00000558080.1:n.371+28_371+31del
ENST00000558319.5:c.6006+28_6006+31del	ENSP00000453599.1:n.6006+28_6006+31del
ENST00000559511.5:c.715-4216_715-4213del
ENST00000559822.1:c.549+28_549+31del
NM_001160227.1:c.5867-2054_5867-2051del	NP_001153699.1:n.5867-2054_5867-2051del
NM_025137.3:c.6006+28_6006+31del	NP_079413.3:n.6006+28_6006+31del
XM_005254695.3:c.5748+28_5748+31del	XP_005254752.1:n.5748+28_5748+31del
XM_006720700.1:c.5862+28_5862+31del	XP_006720763.1:n.5862+28_5862+31del
XM_017022634.1:c.6006+28_6006+31del	XP_016878123.1:n.6006+28_6006+31del
XM_017022636.1:c.2883+28_2883+31del	XP_016878125.1:n.2883+28_2883+31del
NM_025137.4:c.6006+28_6006+31del MANE Select	NP_079413.3:n.6006+28_6006+31del
NM_001160227.2:c.5867-2054_5867-2051del	NP_001153699.1:n.5867-2054_5867-2051del