Canonical Allele Identifier: CA7534445

Gene: SPG11

Linked Data

• dbSNP Id: rs752691699
• ExAC: 15:44876653 G / GACAA
• MyVariant Identifiers: chr15:g.44876653_44876654insACAA (hg19) ; chr15:g.44584455_44584456insACAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584456_44584457insCAAA , CM000677.2:g.44584456_44584457insCAAA	GRCh38
NC_000015.9:g.44876654_44876655insCAAA , CM000677.1:g.44876654_44876655insCAAA	GRCh37
NC_000015.8:g.42663946_42663947insCAAA	NCBI36
NG_008885.1:g.84223_84224insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5224_5225insTTGT	ENSP00000453246.2:p.Ser1742PhefsTer21
ENST00000561391.2:n.1452_1453insTTGT
ENST00000682065.1:c.5122-42_5122-41insTTGT	ENSP00000507025.1:n.5122-42_5122-41insTTGT
ENST00000682460.1:c.*1481_*1482insTTGT	ENSP00000508334.1:n.*1481_*1482insTTGT
ENST00000682495.1:c.*1716_*1717insTTGT	ENSP00000507166.1:n.*1716_*1717insTTGT
ENST00000682669.1:c.5023_5024insTTGT	ENSP00000507782.1:p.Ser1675PhefsTer21
ENST00000683186.1:c.*1987_*1988insTTGT	ENSP00000507268.1:n.*1987_*1988insTTGT
ENST00000683496.1:c.5224_5225insTTGT	ENSP00000506968.1:p.Ser1742PhefsTer21
ENST00000683734.1:c.5224_5225insTTGT	ENSP00000508319.1:p.Ser1742PhefsTer21
ENST00000683753.1:n.4270_4271insTTGT
ENST00000684038.1:c.*1644_*1645insTTGT	ENSP00000507141.1:n.*1644_*1645insTTGT
ENST00000684235.1:c.5224_5225insTTGT	ENSP00000508295.1:p.Ser1742PhefsTer21
ENST00000684676.1:c.5224_5225insTTGT	ENSP00000506948.1:p.Ser1742PhefsTer21
ENST00000261866.12:c.5224_5225insTTGT MANE Select	ENSP00000261866.7:p.Ser1742PhefsTer21
ENST00000261866.11:c.5224_5225insTTGT	ENSP00000261866.7:p.Ser1742PhefsTer21
ENST00000427534.6:c.5224_5225insTTGT	ENSP00000396110.2:p.Ser1742PhefsTer21
ENST00000535302.6:c.5224_5225insTTGT	ENSP00000445278.2:p.Ser1742PhefsTer21
ENST00000558319.5:c.5224_5225insTTGT	ENSP00000453599.1:p.Ser1742PhefsTer21
ENST00000558790.5:n.661_662insTTGT
ENST00000559511.5:c.72_73insTTGT
NM_001160227.1:c.5224_5225insTTGT	NP_001153699.1:p.Ser1742PhefsTer21
NM_025137.3:c.5224_5225insTTGT	NP_079413.3:p.Ser1742PhefsTer21
XM_005254695.3:c.4966_4967insTTGT	XP_005254752.1:p.Ser1656PhefsTer21
XM_006720700.1:c.5122-42_5122-41insTTGT	XP_006720763.1:n.5122-42_5122-41insTTGT
XM_017022634.1:c.5224_5225insTTGT	XP_016878123.1:p.Ser1742PhefsTer21
XM_017022636.1:c.2101_2102insTTGT	XP_016878125.1:p.Ser701PhefsTer21
XR_931917.2:n.5278_5279insTTGT
NM_025137.4:c.5224_5225insTTGT MANE Select	NP_079413.3:p.Ser1742PhefsTer21
NM_001160227.2:c.5224_5225insTTGT	NP_001153699.1:p.Ser1742PhefsTer21