Canonical Allele Identifier: CA2628202063

Gene: SPG11

Linked Data

• gnomAD v4: 15-44573551-T-TCCCTGTGATGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573552_44573563dup , CM000677.2:g.44573552_44573563dup	GRCh38
NC_000015.9:g.44865750_44865761dup , CM000677.1:g.44865750_44865761dup	GRCh37
NC_000015.8:g.42653042_42653053dup	NCBI36
NG_008885.1:g.95116_95127dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-2905_5867-2894dup	ENSP00000453246.2:n.5867-2905_5867-2894dup
ENST00000561391.2:n.2417_2428dup
ENST00000682065.1:c.6045_6056dup	ENSP00000507025.1:p.Gly2019_Thr2020insSerSerGlnGly
ENST00000682460.1:c.*2446_*2457dup	ENSP00000508334.1:n.*2446_*2457dup
ENST00000682495.1:c.*2681_*2692dup	ENSP00000507166.1:n.*2681_*2692dup
ENST00000682669.1:c.5988_5999dup	ENSP00000507782.1:p.Gly2000_Thr2001insSerSerGlnGly
ENST00000683186.1:c.*2952_*2963dup	ENSP00000507268.1:n.*2952_*2963dup
ENST00000683496.1:c.6006+1339_6006+1350dup	ENSP00000506968.1:n.6006+1339_6006+1350dup
ENST00000683734.1:c.*139_*150dup	ENSP00000508319.1:n.*139_*150dup
ENST00000683753.1:n.5235_5246dup
ENST00000684038.1:c.*2609_*2620dup	ENSP00000507141.1:n.*2609_*2620dup
ENST00000684235.1:c.6189_6200dup	ENSP00000508295.1:p.Gly2067_Thr2068insSerSerGlnGly
ENST00000684676.1:c.*338_*349dup	ENSP00000506948.1:n.*338_*349dup
ENST00000261866.12:c.6189_6200dup MANE Select	ENSP00000261866.7:p.Gly2067_Thr2068insSerSerGlnGly
ENST00000261866.11:c.6189_6200dup	ENSP00000261866.7:p.Gly2067_Thr2068insSerSerGlnGly
ENST00000427534.6:c.6189_6200dup	ENSP00000396110.2:p.Gly2067_Thr2068insSerSerGlnGly
ENST00000535302.6:c.5867-743_5867-732dup	ENSP00000445278.2:n.5867-743_5867-732dup
ENST00000558080.1:n.554_565dup
ENST00000558319.5:c.6189_6200dup	ENSP00000453599.1:p.Gly2067_Thr2068insSerSerGlnGly
ENST00000559511.5:c.715-2905_715-2894dup
ENST00000559933.1:n.258_269dup
ENST00000561268.5:n.121_132dup
NM_001160227.1:c.5867-743_5867-732dup	NP_001153699.1:n.5867-743_5867-732dup
NM_025137.3:c.6189_6200dup	NP_079413.3:p.Gly2067_Thr2068insSerSerGlnGly
XM_005254695.3:c.5931_5942dup	XP_005254752.1:p.Gly1981_Thr1982insSerSerGlnGly
XM_006720700.1:c.6045_6056dup	XP_006720763.1:p.Gly2019_Thr2020insSerSerGlnGly
XM_017022634.1:c.6189_6200dup	XP_016878123.1:p.Gly2067_Thr2068insSerSerGlnGly
XM_017022636.1:c.3066_3077dup	XP_016878125.1:p.Gly1026_Thr1027insSerSerGlnGly
NM_025137.4:c.6189_6200dup MANE Select	NP_079413.3:p.Gly2067_Thr2068insSerSerGlnGly
NM_001160227.2:c.5867-743_5867-732dup	NP_001153699.1:n.5867-743_5867-732dup