Canonical Allele Identifier: CA2628202067

Gene: SPG11

Linked Data

• gnomAD v4: 15-44573557-T-TGATGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573561_44573562insGGATG , CM000677.2:g.44573561_44573562insGGATG	GRCh38
NC_000015.9:g.44865759_44865760insGGATG , CM000677.1:g.44865759_44865760insGGATG	GRCh37
NC_000015.8:g.42653051_42653052insGGATG	NCBI36
NG_008885.1:g.95121_95122insCCATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-2900_5867-2899insCCATC	ENSP00000453246.2:n.5867-2900_5867-2899insCCATC
ENST00000561391.2:n.2422_2423insCCATC
ENST00000682065.1:c.6050_6051insCCATC	ENSP00000507025.1:p.Gln2018HisfsTer23
ENST00000682460.1:c.*2451_*2452insCCATC	ENSP00000508334.1:n.*2451_*2452insCCATC
ENST00000682495.1:c.*2686_*2687insCCATC	ENSP00000507166.1:n.*2686_*2687insCCATC
ENST00000682669.1:c.5993_5994insCCATC	ENSP00000507782.1:p.Gln1999HisfsTer23
ENST00000683186.1:c.*2957_*2958insCCATC	ENSP00000507268.1:n.*2957_*2958insCCATC
ENST00000683496.1:c.6006+1344_6006+1345insCCATC	ENSP00000506968.1:n.6006+1344_6006+1345insCCATC
ENST00000683734.1:c.*144_*145insCCATC	ENSP00000508319.1:n.*144_*145insCCATC
ENST00000683753.1:n.5240_5241insCCATC
ENST00000684038.1:c.*2614_*2615insCCATC	ENSP00000507141.1:n.*2614_*2615insCCATC
ENST00000684235.1:c.6194_6195insCCATC	ENSP00000508295.1:p.Gln2066HisfsTer23
ENST00000684676.1:c.*343_*344insCCATC	ENSP00000506948.1:n.*343_*344insCCATC
ENST00000261866.12:c.6194_6195insCCATC MANE Select	ENSP00000261866.7:p.Gln2066HisfsTer23
ENST00000261866.11:c.6194_6195insCCATC	ENSP00000261866.7:p.Gln2066HisfsTer23
ENST00000427534.6:c.6194_6195insCCATC	ENSP00000396110.2:p.Gln2066HisfsTer23
ENST00000535302.6:c.5867-738_5867-737insCCATC	ENSP00000445278.2:n.5867-738_5867-737insCCATC
ENST00000558080.1:n.559_560insCCATC
ENST00000558319.5:c.6194_6195insCCATC	ENSP00000453599.1:p.Gln2066HisfsTer21
ENST00000559511.5:c.715-2900_715-2899insCCATC
ENST00000559933.1:n.263_264insCCATC
ENST00000561268.5:n.126_127insCCATC
NM_001160227.1:c.5867-738_5867-737insCCATC	NP_001153699.1:n.5867-738_5867-737insCCATC
NM_025137.3:c.6194_6195insCCATC	NP_079413.3:p.Gln2066HisfsTer23
XM_005254695.3:c.5936_5937insCCATC	XP_005254752.1:p.Gln1980HisfsTer23
XM_006720700.1:c.6050_6051insCCATC	XP_006720763.1:p.Gln2018HisfsTer23
XM_017022634.1:c.6194_6195insCCATC	XP_016878123.1:p.Gln2066HisfsTer23
XM_017022636.1:c.3071_3072insCCATC	XP_016878125.1:p.Gln1025HisfsTer23
NM_025137.4:c.6194_6195insCCATC MANE Select	NP_079413.3:p.Gln2066HisfsTer23
NM_001160227.2:c.5867-738_5867-737insCCATC	NP_001153699.1:n.5867-738_5867-737insCCATC