Canonical Allele Identifier: CA344360

Gene: SPG11

Linked Data

• ClinVar Variation Id: 41329
• ClinVar RCV Id: RCV000034230
• MyVariant Identifiers: chr15:g.44862154_44870476del (hg19) ; chr15:g.44569956_44578278del (hg38)
• PubMed: PMID:18787847 ; PMID:20301389

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44569998_44578320del , CM000677.2:g.44569998_44578320del	GRCh38
NC_000015.9:g.44862196_44870518del , CM000677.1:g.44862196_44870518del	GRCh37
NC_000015.8:g.42649488_42657810del	NCBI36
NG_008885.1:g.90401_98723del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5866+5536_6001-451del
ENST00000682065.1:c.5723-3237_6334-451del
ENST00000682460.1:c.*2124-3237_*2735-451del
ENST00000682495.1:c.*2359-3237_*2970-451del
ENST00000682669.1:c.5666-3237_6277-451del
ENST00000683186.1:c.*2630-3237_*3241-451del
ENST00000683496.1:c.5867-3237_*120-451del
ENST00000683734.1:c.5867-4533_*428-451del
ENST00000683753.1:n.4913-3237_5524-451del
ENST00000684038.1:c.*2287-3237_*2898-451del
ENST00000684235.1:c.5867-3237_6478-451del
ENST00000261866.12:c.5867-3237_6478-451del
ENST00000261866.11:c.5867-3237_6478-451del
ENST00000427534.6:c.5867-3237_6478-451del
ENST00000535302.6:c.5867-5458_6139-451del
ENST00000559511.5:c.714+5536_849-451del
NM_001160227.1:c.5867-5458_6139-451del
NM_025137.3:c.5867-3237_6478-451del
XM_005254695.3:c.5609-3237_6220-451del
XM_006720700.1:c.5723-3237_6334-451del
XM_017022634.1:c.5867-3237_6477+569del
XM_017022636.1:c.2744-3237_3355-451del
NM_025137.4:c.5867-3237_6478-451del
NM_001160227.2:c.5867-5458_6139-451del