Canonical Allele Identifier: CA2173686678

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584480_44584481delinsAT , CM000677.2:g.44584480_44584481delinsAT	GRCh38
NC_000015.9:g.44876678_44876679delinsAT , CM000677.1:g.44876678_44876679delinsAT	GRCh37
NC_000015.8:g.42663970_42663971delinsAT	NCBI36
NG_008885.1:g.84198_84199delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5199_5200delinsAT	ENSP00000453246.2:p.Lys1733=
ENST00000561391.2:n.1427_1428delinsAT
ENST00000682065.1:c.5122-67_5122-66delinsAT	ENSP00000507025.1:n.5122-67_5122-66delinsAT
ENST00000682460.1:c.*1456_*1457delinsAT	ENSP00000508334.1:n.*1456_*1457delinsAT
ENST00000682495.1:c.*1691_*1692delinsAT	ENSP00000507166.1:n.*1691_*1692delinsAT
ENST00000682669.1:c.4998_4999delinsAT	ENSP00000507782.1:p.Lys1666=
ENST00000683186.1:c.*1962_*1963delinsAT	ENSP00000507268.1:n.*1962_*1963delinsAT
ENST00000683496.1:c.5199_5200delinsAT	ENSP00000506968.1:p.Lys1733=
ENST00000683734.1:c.5199_5200delinsAT	ENSP00000508319.1:p.Lys1733=
ENST00000683753.1:n.4245_4246delinsAT
ENST00000684038.1:c.*1619_*1620delinsAT	ENSP00000507141.1:n.*1619_*1620delinsAT
ENST00000684235.1:c.5199_5200delinsAT	ENSP00000508295.1:p.Lys1733=
ENST00000684676.1:c.5199_5200delinsAT	ENSP00000506948.1:p.Lys1733=
ENST00000261866.12:c.5199_5200delinsAT MANE Select	ENSP00000261866.7:p.Lys1733=
ENST00000261866.11:c.5199_5200delinsAT	ENSP00000261866.7:p.Lys1733=
ENST00000427534.6:c.5199_5200delinsAT	ENSP00000396110.2:p.Lys1733=
ENST00000535302.6:c.5199_5200delinsAT	ENSP00000445278.2:p.Lys1733=
ENST00000558319.5:c.5199_5200delinsAT	ENSP00000453599.1:p.Lys1733=
ENST00000558790.5:n.636_637delinsAT
ENST00000559511.5:c.47_48delinsAT
NM_001160227.1:c.5199_5200delinsAT	NP_001153699.1:p.Lys1733=
NM_025137.3:c.5199_5200delinsAT	NP_079413.3:p.Lys1733=
XM_005254695.3:c.4941_4942delinsAT	XP_005254752.1:p.Lys1647=
XM_006720700.1:c.5122-67_5122-66delinsAT	XP_006720763.1:n.5122-67_5122-66delinsAT
XM_017022634.1:c.5199_5200delinsAT	XP_016878123.1:p.Lys1733=
XM_017022636.1:c.2076_2077delinsAT	XP_016878125.1:p.Lys692=
XR_931917.2:n.5253_5254delinsAT
NM_025137.4:c.5199_5200delinsAT MANE Select	NP_079413.3:p.Lys1733=
NM_001160227.2:c.5199_5200delinsAT	NP_001153699.1:p.Lys1733=