Canonical Allele Identifier: CA2173694734

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44583910_44583911delinsTA , CM000677.2:g.44583910_44583911delinsTA	GRCh38
NC_000015.9:g.44876108_44876109delinsTA , CM000677.1:g.44876108_44876109delinsTA	GRCh37
NC_000015.8:g.42663400_42663401delinsTA	NCBI36
NG_008885.1:g.84768_84769delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5769_5770delinsTA	ENSP00000453246.2:p.Ser1923=
ENST00000561391.2:n.1997_1998delinsTA
ENST00000682065.1:c.5625_5626delinsTA	ENSP00000507025.1:p.Ser1875=
ENST00000682460.1:c.*2026_*2027delinsTA	ENSP00000508334.1:n.*2026_*2027delinsTA
ENST00000682495.1:c.*2261_*2262delinsTA	ENSP00000507166.1:n.*2261_*2262delinsTA
ENST00000682669.1:c.5568_5569delinsTA	ENSP00000507782.1:p.Ser1856=
ENST00000683186.1:c.*2532_*2533delinsTA	ENSP00000507268.1:n.*2532_*2533delinsTA
ENST00000683496.1:c.5769_5770delinsTA	ENSP00000506968.1:p.Ser1923=
ENST00000683734.1:c.5769_5770delinsTA	ENSP00000508319.1:p.Ser1923=
ENST00000683753.1:n.4815_4816delinsTA
ENST00000684038.1:c.*2189_*2190delinsTA	ENSP00000507141.1:n.*2189_*2190delinsTA
ENST00000684235.1:c.5769_5770delinsTA	ENSP00000508295.1:p.Ser1923=
ENST00000684676.1:c.5540_5541delinsTA	ENSP00000506948.1:p.Val1847=
ENST00000261866.12:c.5769_5770delinsTA MANE Select	ENSP00000261866.7:p.Ser1923=
ENST00000261866.11:c.5769_5770delinsTA	ENSP00000261866.7:p.Ser1923=
ENST00000427534.6:c.5769_5770delinsTA	ENSP00000396110.2:p.Ser1923=
ENST00000535302.6:c.5769_5770delinsTA	ENSP00000445278.2:p.Ser1923=
ENST00000558319.5:c.5769_5770delinsTA	ENSP00000453599.1:p.Ser1923=
ENST00000559511.5:c.617_618delinsTA
ENST00000559822.1:c.312_313delinsTA
NM_001160227.1:c.5769_5770delinsTA	NP_001153699.1:p.Ser1923=
NM_025137.3:c.5769_5770delinsTA	NP_079413.3:p.Ser1923=
XM_005254695.3:c.5511_5512delinsTA	XP_005254752.1:p.Ser1837=
XM_006720700.1:c.5625_5626delinsTA	XP_006720763.1:p.Ser1875=
XM_017022634.1:c.5769_5770delinsTA	XP_016878123.1:p.Ser1923=
XM_017022636.1:c.2646_2647delinsTA	XP_016878125.1:p.Ser882=
NM_025137.4:c.5769_5770delinsTA MANE Select	NP_079413.3:p.Ser1923=
NM_001160227.2:c.5769_5770delinsTA	NP_001153699.1:p.Ser1923=