Canonical Allele Identifier: CA713068305

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1516385
• ClinVar RCV Id: RCV002023913
• dbSNP Id: rs1185237931
• MyVariant Identifiers: chr15:g.44876306_44876307insAGA (hg19) ; chr15:g.44584108_44584109insAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584109_44584110insGAA , CM000677.2:g.44584109_44584110insGAA	GRCh38
NC_000015.9:g.44876307_44876308insGAA , CM000677.1:g.44876307_44876308insGAA	GRCh37
NC_000015.8:g.42663599_42663600insGAA	NCBI36
NG_008885.1:g.84570_84571insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5571_5572insTCT	ENSP00000453246.2:p.Leu1857_Asn1858insSer
ENST00000561391.2:n.1799_1800insTCT
ENST00000682065.1:c.5427_5428insTCT	ENSP00000507025.1:p.Leu1809_Asn1810insSer
ENST00000682460.1:c.*1828_*1829insTCT	ENSP00000508334.1:n.*1828_*1829insTCT
ENST00000682495.1:c.*2063_*2064insTCT	ENSP00000507166.1:n.*2063_*2064insTCT
ENST00000682669.1:c.5370_5371insTCT	ENSP00000507782.1:p.Leu1790_Asn1791insSer
ENST00000683186.1:c.*2334_*2335insTCT	ENSP00000507268.1:n.*2334_*2335insTCT
ENST00000683496.1:c.5571_5572insTCT	ENSP00000506968.1:p.Leu1857_Asn1858insSer
ENST00000683734.1:c.5571_5572insTCT	ENSP00000508319.1:p.Leu1857_Asn1858insSer
ENST00000683753.1:n.4617_4618insTCT
ENST00000684038.1:c.*1991_*1992insTCT	ENSP00000507141.1:n.*1991_*1992insTCT
ENST00000684235.1:c.5571_5572insTCT	ENSP00000508295.1:p.Leu1857_Asn1858insSer
ENST00000684676.1:c.5515+56_5515+57insTCT	ENSP00000506948.1:n.5515+56_5515+57insTCT
ENST00000261866.12:c.5571_5572insTCT MANE Select	ENSP00000261866.7:p.Leu1857_Asn1858insSer
ENST00000261866.11:c.5571_5572insTCT	ENSP00000261866.7:p.Leu1857_Asn1858insSer
ENST00000427534.6:c.5571_5572insTCT	ENSP00000396110.2:p.Leu1857_Asn1858insSer
ENST00000535302.6:c.5571_5572insTCT	ENSP00000445278.2:p.Leu1857_Asn1858insSer
ENST00000558319.5:c.5571_5572insTCT	ENSP00000453599.1:p.Leu1857_Asn1858insSer
ENST00000559511.5:c.419_420insTCT
ENST00000559822.1:c.287+56_287+57insTCT
NM_001160227.1:c.5571_5572insTCT	NP_001153699.1:p.Leu1857_Asn1858insSer
NM_025137.3:c.5571_5572insTCT	NP_079413.3:p.Leu1857_Asn1858insSer
XM_005254695.3:c.5313_5314insTCT	XP_005254752.1:p.Leu1771_Asn1772insSer
XM_006720700.1:c.5427_5428insTCT	XP_006720763.1:p.Leu1809_Asn1810insSer
XM_017022634.1:c.5571_5572insTCT	XP_016878123.1:p.Leu1857_Asn1858insSer
XM_017022636.1:c.2448_2449insTCT	XP_016878125.1:p.Leu816_Asn817insSer
NM_025137.4:c.5571_5572insTCT MANE Select	NP_079413.3:p.Leu1857_Asn1858insSer
NM_001160227.2:c.5571_5572insTCT	NP_001153699.1:p.Leu1857_Asn1858insSer