Canonical Allele Identifier: CA2536534528
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584593_44584594insCC , CM000677.2:g.44584593_44584594insCC GRCh38
NC_000015.9:g.44876791_44876792insCC , CM000677.1:g.44876791_44876792insCC GRCh37
NC_000015.8:g.42664083_42664084insCC NCBI36
NG_008885.1:g.84085_84086insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5122-36_5122-35insGG ENSP00000453246.2:n.5122-36_5122-35insGG
ENST00000561391.2:n.1350-36_1350-35insGG
ENST00000682065.1:c.5122-180_5122-179insGG ENSP00000507025.1:n.5122-180_5122-179insGG
ENST00000682460.1:c.*1379-36_*1379-35insGG ENSP00000508334.1:n.*1379-36_*1379-35insGG
ENST00000682495.1:c.*1614-36_*1614-35insGG ENSP00000507166.1:n.*1614-36_*1614-35insGG
ENST00000682669.1:c.4921-36_4921-35insGG ENSP00000507782.1:n.4921-36_4921-35insGG
ENST00000683186.1:c.*1885-36_*1885-35insGG ENSP00000507268.1:n.*1885-36_*1885-35insGG
ENST00000683496.1:c.5122-36_5122-35insGG ENSP00000506968.1:n.5122-36_5122-35insGG
ENST00000683734.1:c.5122-36_5122-35insGG ENSP00000508319.1:n.5122-36_5122-35insGG
ENST00000683753.1:n.4168-36_4168-35insGG
ENST00000684038.1:c.*1542-36_*1542-35insGG ENSP00000507141.1:n.*1542-36_*1542-35insGG
ENST00000684235.1:c.5122-36_5122-35insGG ENSP00000508295.1:n.5122-36_5122-35insGG
ENST00000684676.1:c.5122-36_5122-35insGG ENSP00000506948.1:n.5122-36_5122-35insGG
ENST00000261866.12:c.5122-36_5122-35insGG MANE Select ENSP00000261866.7:n.5122-36_5122-35insGG
ENST00000261866.11:c.5122-36_5122-35insGG ENSP00000261866.7:n.5122-36_5122-35insGG
ENST00000427534.6:c.5122-36_5122-35insGG ENSP00000396110.2:n.5122-36_5122-35insGG
ENST00000535302.6:c.5122-36_5122-35insGG ENSP00000445278.2:n.5122-36_5122-35insGG
ENST00000558319.5:c.5122-36_5122-35insGG ENSP00000453599.1:n.5122-36_5122-35insGG
ENST00000558790.5:n.559-36_559-35insGG
NM_001160227.1:c.5122-36_5122-35insGG NP_001153699.1:n.5122-36_5122-35insGG
NM_025137.3:c.5122-36_5122-35insGG NP_079413.3:n.5122-36_5122-35insGG
XM_005254695.3:c.4864-36_4864-35insGG XP_005254752.1:n.4864-36_4864-35insGG
XM_006720700.1:c.5122-180_5122-179insGG XP_006720763.1:n.5122-180_5122-179insGG
XM_017022634.1:c.5122-36_5122-35insGG XP_016878123.1:n.5122-36_5122-35insGG
XM_017022636.1:c.1999-36_1999-35insGG XP_016878125.1:n.1999-36_1999-35insGG
XR_931917.2:n.5176-36_5176-35insGG
NM_025137.4:c.5122-36_5122-35insGG MANE Select NP_079413.3:n.5122-36_5122-35insGG
NM_001160227.2:c.5122-36_5122-35insGG NP_001153699.1:n.5122-36_5122-35insGG