Canonical Allele Identifier: CA969298179

Gene: SPG11

Linked Data

• dbSNP Id: rs2082330957
• gnomAD v3: 15-44567348-T-TAA
• gnomAD v4: 15-44567348-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44567348_44567349insAA , CM000677.2:g.44567348_44567349insAA	GRCh38
NC_000015.9:g.44859546_44859547insAA , CM000677.1:g.44859546_44859547insAA	GRCh37
NC_000015.8:g.42646838_42646839insAA	NCBI36
NG_008885.1:g.101330_101331insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.445+75_445+76insTT	ENSP00000453314.2:n.445+75_445+76insTT
ENST00000559511.6:c.6277+75_6277+76insTT	ENSP00000453246.2:n.6277+75_6277+76insTT
ENST00000682065.1:c.6610+75_6610+76insTT	ENSP00000507025.1:n.6610+75_6610+76insTT
ENST00000682460.1:c.*3011+75_*3011+76insTT	ENSP00000508334.1:n.*3011+75_*3011+76insT...
ENST00000682495.1:c.*3246+75_*3246+76insTT	ENSP00000507166.1:n.*3246+75_*3246+76insT...
ENST00000682669.1:c.6553+75_6553+76insTT	ENSP00000507782.1:n.6553+75_6553+76insTT
ENST00000683186.1:c.*3517+75_*3517+76insTT	ENSP00000507268.1:n.*3517+75_*3517+76insT...
ENST00000683496.1:c.*396+75_*396+76insTT	ENSP00000506968.1:n.*396+75_*396+76insTT
ENST00000683734.1:c.*704+75_*704+76insTT	ENSP00000508319.1:n.*704+75_*704+76insTT
ENST00000683753.1:n.5800+75_5800+76insTT
ENST00000684038.1:c.*3174+75_*3174+76insTT	ENSP00000507141.1:n.*3174+75_*3174+76insT...
ENST00000684235.1:c.6754+75_6754+76insTT	ENSP00000508295.1:n.6754+75_6754+76insTT
ENST00000261866.12:c.6754+75_6754+76insTT MANE Select	ENSP00000261866.7:n.6754+75_6754+76insTT
ENST00000261866.11:c.6754+75_6754+76insTT	ENSP00000261866.7:n.6754+75_6754+76insTT
ENST00000427534.6:c.6754+75_6754+76insTT	ENSP00000396110.2:n.6754+75_6754+76insTT
ENST00000535302.6:c.6415+75_6415+76insTT	ENSP00000445278.2:n.6415+75_6415+76insTT
ENST00000558138.1:c.445+75_445+76insTT	ENSP00000453314.1:n.445+75_445+76insTT
ENST00000559347.1:n.583+75_583+76insTT
ENST00000559511.5:c.1125+75_1125+76insTT
ENST00000561268.5:n.519_520insTT
NM_001160227.1:c.6415+75_6415+76insTT	NP_001153699.1:n.6415+75_6415+76insTT
NM_025137.3:c.6754+75_6754+76insTT	NP_079413.3:n.6754+75_6754+76insTT
XM_005254695.3:c.6496+75_6496+76insTT	XP_005254752.1:n.6496+75_6496+76insTT
XM_006720700.1:c.6610+75_6610+76insTT	XP_006720763.1:n.6610+75_6610+76insTT
XM_017022634.1:c.6646+75_6646+76insTT	XP_016878123.1:n.6646+75_6646+76insTT
XM_017022636.1:c.3631+75_3631+76insTT	XP_016878125.1:n.3631+75_3631+76insTT
NM_025137.4:c.6754+75_6754+76insTT MANE Select	NP_079413.3:n.6754+75_6754+76insTT
NM_001160227.2:c.6415+75_6415+76insTT	NP_001153699.1:n.6415+75_6415+76insTT