Canonical Allele Identifier: CA2575708434

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584393_44584394insCAT , CM000677.2:g.44584393_44584394insCAT	GRCh38
NC_000015.9:g.44876591_44876592insCAT , CM000677.1:g.44876591_44876592insCAT	GRCh37
NC_000015.8:g.42663883_42663884insCAT	NCBI36
NG_008885.1:g.84285_84286insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5286_5287insATG	ENSP00000453246.2:p.His1762_Pro1763insMet
ENST00000561391.2:n.1514_1515insATG
ENST00000682065.1:c.5142_5143insATG	ENSP00000507025.1:p.His1714_Pro1715insMet
ENST00000682460.1:c.*1543_*1544insATG	ENSP00000508334.1:n.*1543_*1544insATG
ENST00000682495.1:c.*1778_*1779insATG	ENSP00000507166.1:n.*1778_*1779insATG
ENST00000682669.1:c.5085_5086insATG	ENSP00000507782.1:p.His1695_Pro1696insMet
ENST00000683186.1:c.*2049_*2050insATG	ENSP00000507268.1:n.*2049_*2050insATG
ENST00000683496.1:c.5286_5287insATG	ENSP00000506968.1:p.His1762_Pro1763insMet
ENST00000683734.1:c.5286_5287insATG	ENSP00000508319.1:p.His1762_Pro1763insMet
ENST00000683753.1:n.4332_4333insATG
ENST00000684038.1:c.*1706_*1707insATG	ENSP00000507141.1:n.*1706_*1707insATG
ENST00000684235.1:c.5286_5287insATG	ENSP00000508295.1:p.His1762_Pro1763insMet
ENST00000684676.1:c.5286_5287insATG	ENSP00000506948.1:p.His1762_Pro1763insMet
ENST00000261866.12:c.5286_5287insATG MANE Select	ENSP00000261866.7:p.His1762_Pro1763insMet
ENST00000261866.11:c.5286_5287insATG	ENSP00000261866.7:p.His1762_Pro1763insMet
ENST00000427534.6:c.5286_5287insATG	ENSP00000396110.2:p.His1762_Pro1763insMet
ENST00000535302.6:c.5286_5287insATG	ENSP00000445278.2:p.His1762_Pro1763insMet
ENST00000558319.5:c.5286_5287insATG	ENSP00000453599.1:p.His1762_Pro1763insMet
ENST00000558790.5:n.723_724insATG
ENST00000559511.5:c.134_135insATG
ENST00000559822.1:c.58_59insATG
NM_001160227.1:c.5286_5287insATG	NP_001153699.1:p.His1762_Pro1763insMet
NM_025137.3:c.5286_5287insATG	NP_079413.3:p.His1762_Pro1763insMet
XM_005254695.3:c.5028_5029insATG	XP_005254752.1:p.His1676_Pro1677insMet
XM_006720700.1:c.5142_5143insATG	XP_006720763.1:p.His1714_Pro1715insMet
XM_017022634.1:c.5286_5287insATG	XP_016878123.1:p.His1762_Pro1763insMet
XM_017022636.1:c.2163_2164insATG	XP_016878125.1:p.His721_Pro722insMet
XR_931917.2:n.5340_5341insATG
NM_025137.4:c.5286_5287insATG MANE Select	NP_079413.3:p.His1762_Pro1763insMet
NM_001160227.2:c.5286_5287insATG	NP_001153699.1:p.His1762_Pro1763insMet