Canonical Allele Identifier: CA2173685363

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570563_44570565delinsCTG , CM000677.2:g.44570563_44570565delinsCTG	GRCh38
NC_000015.9:g.44862761_44862763delinsCTG , CM000677.1:g.44862761_44862763delinsCTG	GRCh37
NC_000015.8:g.42650053_42650055delinsCTG	NCBI36
NG_008885.1:g.98114_98116delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.236_238delinsCAG	ENSP00000453314.2:p.Thr79=
ENST00000559511.6:c.5960_5962delinsCAG	ENSP00000453246.2:p.Thr1987=
ENST00000682065.1:c.6293_6295delinsCAG	ENSP00000507025.1:p.Thr2098=
ENST00000682460.1:c.*2694_*2696delinsCAG	ENSP00000508334.1:n.*2694_*2696delinsCAG
ENST00000682495.1:c.*2929_*2931delinsCAG	ENSP00000507166.1:n.*2929_*2931delinsCAG
ENST00000682669.1:c.6236_6238delinsCAG	ENSP00000507782.1:p.Thr2079=
ENST00000683186.1:c.*3200_*3202delinsCAG	ENSP00000507268.1:n.*3200_*3202delinsCAG
ENST00000683496.1:c.*79_*81delinsCAG	ENSP00000506968.1:n.*79_*81delinsCAG
ENST00000683734.1:c.*387_*389delinsCAG	ENSP00000508319.1:n.*387_*389delinsCAG
ENST00000683753.1:n.5483_5485delinsCAG
ENST00000684038.1:c.*2857_*2859delinsCAG	ENSP00000507141.1:n.*2857_*2859delinsCAG
ENST00000684235.1:c.6437_6439delinsCAG	ENSP00000508295.1:p.Thr2146=
ENST00000261866.12:c.6437_6439delinsCAG MANE Select	ENSP00000261866.7:p.Thr2146=
ENST00000261866.11:c.6437_6439delinsCAG	ENSP00000261866.7:p.Thr2146=
ENST00000427534.6:c.6437_6439delinsCAG	ENSP00000396110.2:p.Thr2146=
ENST00000535302.6:c.6098_6100delinsCAG	ENSP00000445278.2:p.Thr2033=
ENST00000558138.1:c.236_238delinsCAG	ENSP00000453314.1:p.Thr79=
ENST00000559347.1:n.266_268delinsCAG
ENST00000559511.5:c.808_810delinsCAG
ENST00000559933.1:n.506_508delinsCAG
ENST00000561268.5:n.275+2118_275+2120delinsCAG
NM_001160227.1:c.6098_6100delinsCAG	NP_001153699.1:p.Thr2033=
NM_025137.3:c.6437_6439delinsCAG	NP_079413.3:p.Thr2146=
XM_005254695.3:c.6179_6181delinsCAG	XP_005254752.1:p.Thr2060=
XM_006720700.1:c.6293_6295delinsCAG	XP_006720763.1:p.Thr2098=
XM_017022634.1:c.6437_6439delinsCAG	XP_016878123.1:p.Thr2146=
XM_017022636.1:c.3314_3316delinsCAG	XP_016878125.1:p.Thr1105=
NM_025137.4:c.6437_6439delinsCAG MANE Select	NP_079413.3:p.Thr2146=
NM_001160227.2:c.6098_6100delinsCAG	NP_001153699.1:p.Thr2033=