Canonical Allele Identifier: CA2173686345

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584357_44584358delinsGC , CM000677.2:g.44584357_44584358delinsGC	GRCh38
NC_000015.9:g.44876555_44876556delinsGC , CM000677.1:g.44876555_44876556delinsGC	GRCh37
NC_000015.8:g.42663847_42663848delinsGC	NCBI36
NG_008885.1:g.84321_84322delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5322_5323delinsGC	ENSP00000453246.2:p.Leu1774=
ENST00000561391.2:n.1550_1551delinsGC
ENST00000682065.1:c.5178_5179delinsGC	ENSP00000507025.1:p.Leu1726=
ENST00000682460.1:c.*1579_*1580delinsGC	ENSP00000508334.1:n.*1579_*1580delinsGC
ENST00000682495.1:c.*1814_*1815delinsGC	ENSP00000507166.1:n.*1814_*1815delinsGC
ENST00000682669.1:c.5121_5122delinsGC	ENSP00000507782.1:p.Leu1707=
ENST00000683186.1:c.*2085_*2086delinsGC	ENSP00000507268.1:n.*2085_*2086delinsGC
ENST00000683496.1:c.5322_5323delinsGC	ENSP00000506968.1:p.Leu1774=
ENST00000683734.1:c.5322_5323delinsGC	ENSP00000508319.1:p.Leu1774=
ENST00000683753.1:n.4368_4369delinsGC
ENST00000684038.1:c.*1742_*1743delinsGC	ENSP00000507141.1:n.*1742_*1743delinsGC
ENST00000684235.1:c.5322_5323delinsGC	ENSP00000508295.1:p.Leu1774=
ENST00000684676.1:c.5322_5323delinsGC	ENSP00000506948.1:p.Leu1774=
ENST00000261866.12:c.5322_5323delinsGC MANE Select	ENSP00000261866.7:p.Leu1774=
ENST00000261866.11:c.5322_5323delinsGC	ENSP00000261866.7:p.Leu1774=
ENST00000427534.6:c.5322_5323delinsGC	ENSP00000396110.2:p.Leu1774=
ENST00000535302.6:c.5322_5323delinsGC	ENSP00000445278.2:p.Leu1774=
ENST00000558319.5:c.5322_5323delinsGC	ENSP00000453599.1:p.Leu1774=
ENST00000558790.5:n.759_760delinsGC
ENST00000559511.5:c.170_171delinsGC
ENST00000559822.1:c.94_95delinsGC
NM_001160227.1:c.5322_5323delinsGC	NP_001153699.1:p.Leu1774=
NM_025137.3:c.5322_5323delinsGC	NP_079413.3:p.Leu1774=
XM_005254695.3:c.5064_5065delinsGC	XP_005254752.1:p.Leu1688=
XM_006720700.1:c.5178_5179delinsGC	XP_006720763.1:p.Leu1726=
XM_017022634.1:c.5322_5323delinsGC	XP_016878123.1:p.Leu1774=
XM_017022636.1:c.2199_2200delinsGC	XP_016878125.1:p.Leu733=
XR_931917.2:n.5376_5377delinsGC
NM_025137.4:c.5322_5323delinsGC MANE Select	NP_079413.3:p.Leu1774=
NM_001160227.2:c.5322_5323delinsGC	NP_001153699.1:p.Leu1774=