Canonical Allele Identifier: CA617675971

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1344096
• ClinVar RCV Id: RCV001848199
• dbSNP Id: rs1304713296
• gnomAD v2: 15-44862744-GGGGGCCA-G
• gnomAD v4: 15-44570546-GGGGGCCA-G
• MyVariant Identifiers: chr15:g.44862745_44862751del (hg19) ; chr15:g.44570547_44570553del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570549_44570555del , CM000677.2:g.44570549_44570555del	GRCh38
NC_000015.9:g.44862747_44862753del , CM000677.1:g.44862747_44862753del	GRCh37
NC_000015.8:g.42650039_42650045del	NCBI36
NG_008885.1:g.98126_98132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.248_254del	ENSP00000453314.2:p.Leu83ProfsTer8
ENST00000559511.6:c.5972_5978del	ENSP00000453246.2:p.Leu1991ProfsTer21
ENST00000682065.1:c.6305_6311del	ENSP00000507025.1:p.Leu2102ProfsTer21
ENST00000682460.1:c.*2706_*2712del	ENSP00000508334.1:n.*2706_*2712del
ENST00000682495.1:c.*2941_*2947del	ENSP00000507166.1:n.*2941_*2947del
ENST00000682669.1:c.6248_6254del	ENSP00000507782.1:p.Leu2083ProfsTer21
ENST00000683186.1:c.*3212_*3218del	ENSP00000507268.1:n.*3212_*3218del
ENST00000683496.1:c.*91_*97del	ENSP00000506968.1:n.*91_*97del
ENST00000683734.1:c.*399_*405del	ENSP00000508319.1:n.*399_*405del
ENST00000683753.1:n.5495_5501del
ENST00000684038.1:c.*2869_*2875del	ENSP00000507141.1:n.*2869_*2875del
ENST00000684235.1:c.6449_6455del	ENSP00000508295.1:p.Leu2150ProfsTer21
ENST00000261866.12:c.6449_6455del MANE Select	ENSP00000261866.7:p.Leu2150ProfsTer21
ENST00000261866.11:c.6449_6455del	ENSP00000261866.7:p.Leu2150ProfsTer21
ENST00000427534.6:c.6449_6455del	ENSP00000396110.2:p.Leu2150ProfsTer21
ENST00000535302.6:c.6110_6116del	ENSP00000445278.2:p.Leu2037ProfsTer21
ENST00000558138.1:c.248_254del	ENSP00000453314.1:p.Leu83ProfsTer8
ENST00000559347.1:n.278_284del
ENST00000559511.5:c.820_826del
ENST00000561268.5:n.275+2130_275+2136del
NM_001160227.1:c.6110_6116del	NP_001153699.1:p.Leu2037ProfsTer21
NM_025137.3:c.6449_6455del	NP_079413.3:p.Leu2150ProfsTer21
XM_005254695.3:c.6191_6197del	XP_005254752.1:p.Leu2064ProfsTer21
XM_006720700.1:c.6305_6311del	XP_006720763.1:p.Leu2102ProfsTer21
XM_017022634.1:c.6449_6455del	XP_016878123.1:p.Leu2150ProfsTer8
XM_017022636.1:c.3326_3332del	XP_016878125.1:p.Leu1109ProfsTer21
NM_025137.4:c.6449_6455del MANE Select	NP_079413.3:p.Leu2150ProfsTer21
NM_001160227.2:c.6110_6116del	NP_001153699.1:p.Leu2037ProfsTer21