Canonical Allele Identifier: CA2173701341

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598802_44598804delinsCTA , CM000677.2:g.44598802_44598804delinsCTA	GRCh38
NC_000015.9:g.44891000_44891002delinsCTA , CM000677.1:g.44891000_44891002delinsCTA	GRCh37
NC_000015.8:g.42678292_42678294delinsCTA	NCBI36
NG_008885.1:g.69875_69877delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3719_3721delinsTAG	ENSP00000453246.2:p.Ile1240=
ENST00000682065.1:c.3719_3721delinsTAG	ENSP00000507025.1:p.Ile1240=
ENST00000682460.1:c.*139_*141delinsTAG	ENSP00000508334.1:n.*139_*141delinsTAG
ENST00000682495.1:c.*211_*213delinsTAG	ENSP00000507166.1:n.*211_*213delinsTAG
ENST00000682669.1:c.3518_3520delinsTAG	ENSP00000507782.1:p.Ile1173=
ENST00000682788.1:c.3719_3721delinsTAG	ENSP00000508089.1:p.Ile1240=
ENST00000682915.1:c.3812_3814delinsTAG	ENSP00000507493.1:n.3812_3814delinsTAG
ENST00000683121.1:c.3719_3721delinsTAG	ENSP00000507557.1:p.Ile1240=
ENST00000683186.1:c.*482_*484delinsTAG	ENSP00000507268.1:n.*482_*484delinsTAG
ENST00000683496.1:c.3719_3721delinsTAG	ENSP00000506968.1:p.Ile1240=
ENST00000683734.1:c.3719_3721delinsTAG	ENSP00000508319.1:p.Ile1240=
ENST00000683753.1:n.2765_2767delinsTAG
ENST00000683838.1:n.793_795delinsTAG
ENST00000684038.1:c.*139_*141delinsTAG	ENSP00000507141.1:n.*139_*141delinsTAG
ENST00000684235.1:c.3719_3721delinsTAG	ENSP00000508295.1:p.Ile1240=
ENST00000684676.1:c.3719_3721delinsTAG	ENSP00000506948.1:p.Ile1240=
ENST00000261866.12:c.3719_3721delinsTAG MANE Select	ENSP00000261866.7:p.Ile1240=
ENST00000261866.11:c.3719_3721delinsTAG	ENSP00000261866.7:p.Ile1240=
ENST00000427534.6:c.3719_3721delinsTAG	ENSP00000396110.2:p.Ile1240=
ENST00000535302.6:c.3719_3721delinsTAG	ENSP00000445278.2:p.Ile1240=
ENST00000558093.1:n.333_335delinsTAG
ENST00000558319.5:c.3719_3721delinsTAG	ENSP00000453599.1:p.Ile1240=
NM_001160227.1:c.3719_3721delinsTAG	NP_001153699.1:p.Ile1240=
NM_025137.3:c.3719_3721delinsTAG	NP_079413.3:p.Ile1240=
XM_005254695.3:c.3461_3463delinsTAG	XP_005254752.1:p.Ile1154=
XM_006720700.1:c.3719_3721delinsTAG	XP_006720763.1:p.Ile1240=
XM_006720701.2:c.3719_3721delinsTAG	XP_006720764.1:p.Ile1240=
XM_011522093.1:c.3687-431_3687-429delinsTAG	XP_011520395.1:n.3687-431_3687-429delinsTAG
XR_931917.1:n.3750_3752delinsTAG
XM_006720701.3:c.3719_3721delinsTAG	XP_006720764.1:p.Ile1240=
XM_017022634.1:c.3719_3721delinsTAG	XP_016878123.1:p.Ile1240=
XM_017022635.2:c.3719_3721delinsTAG	XP_016878124.1:p.Ile1240=
XM_017022636.1:c.596_598delinsTAG	XP_016878125.1:p.Ile199=
XR_001751402.1:n.3718-431_3718-429delinsTAG
XR_931917.2:n.3750_3752delinsTAG
NM_025137.4:c.3719_3721delinsTAG MANE Select	NP_079413.3:p.Ile1240=
NM_001160227.2:c.3719_3721delinsTAG	NP_001153699.1:p.Ile1240=