Canonical Allele Identifier: CA7534417

Gene: SPG11

Linked Data

• dbSNP Id: rs761642635
• ExAC: 15:44876479 T / TCCA
• gnomAD v2: 15-44876479-T-TCCA
• gnomAD v3: 15-44584281-T-TCCA
• gnomAD v4: 15-44584281-T-TCCA
• MyVariant Identifiers: chr15:g.44876479_44876480insCCA (hg19) ; chr15:g.44584281_44584282insCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584281_44584282insCCA , CM000677.2:g.44584281_44584282insCCA	GRCh38
NC_000015.9:g.44876479_44876480insCCA , CM000677.1:g.44876479_44876480insCCA	GRCh37
NC_000015.8:g.42663771_42663772insCCA	NCBI36
NG_008885.1:g.84397_84398insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5398_5399insTGG	ENSP00000453246.2:p.Gln1800delinsLeuGlu
ENST00000561391.2:n.1626_1627insTGG
ENST00000682065.1:c.5254_5255insTGG	ENSP00000507025.1:p.Gln1752delinsLeuGlu
ENST00000682460.1:c.*1655_*1656insTGG	ENSP00000508334.1:n.*1655_*1656insTGG
ENST00000682495.1:c.*1890_*1891insTGG	ENSP00000507166.1:n.*1890_*1891insTGG
ENST00000682669.1:c.5197_5198insTGG	ENSP00000507782.1:p.Gln1733delinsLeuGlu
ENST00000683186.1:c.*2161_*2162insTGG	ENSP00000507268.1:n.*2161_*2162insTGG
ENST00000683496.1:c.5398_5399insTGG	ENSP00000506968.1:p.Gln1800delinsLeuGlu
ENST00000683734.1:c.5398_5399insTGG	ENSP00000508319.1:p.Gln1800delinsLeuGlu
ENST00000683753.1:n.4444_4445insTGG
ENST00000684038.1:c.*1818_*1819insTGG	ENSP00000507141.1:n.*1818_*1819insTGG
ENST00000684235.1:c.5398_5399insTGG	ENSP00000508295.1:p.Gln1800delinsLeuGlu
ENST00000684676.1:c.5398_5399insTGG	ENSP00000506948.1:p.Gln1800delinsLeuGlu
ENST00000261866.12:c.5398_5399insTGG MANE Select	ENSP00000261866.7:p.Gln1800delinsLeuGlu
ENST00000261866.11:c.5398_5399insTGG	ENSP00000261866.7:p.Gln1800delinsLeuGlu
ENST00000427534.6:c.5398_5399insTGG	ENSP00000396110.2:p.Gln1800delinsLeuGlu
ENST00000535302.6:c.5398_5399insTGG	ENSP00000445278.2:p.Gln1800delinsLeuGlu
ENST00000558319.5:c.5398_5399insTGG	ENSP00000453599.1:p.Gln1800delinsLeuGlu
ENST00000558790.5:n.835_836insTGG
ENST00000559511.5:c.246_247insTGG
ENST00000559822.1:c.170_171insTGG
NM_001160227.1:c.5398_5399insTGG	NP_001153699.1:p.Gln1800delinsLeuGlu
NM_025137.3:c.5398_5399insTGG	NP_079413.3:p.Gln1800delinsLeuGlu
XM_005254695.3:c.5140_5141insTGG	XP_005254752.1:p.Gln1714delinsLeuGlu
XM_006720700.1:c.5254_5255insTGG	XP_006720763.1:p.Gln1752delinsLeuGlu
XM_017022634.1:c.5398_5399insTGG	XP_016878123.1:p.Gln1800delinsLeuGlu
XM_017022636.1:c.2275_2276insTGG	XP_016878125.1:p.Gln759delinsLeuGlu
XR_931917.2:n.5452_5453insTGG
NM_025137.4:c.5398_5399insTGG MANE Select	NP_079413.3:p.Gln1800delinsLeuGlu
NM_001160227.2:c.5398_5399insTGG	NP_001153699.1:p.Gln1800delinsLeuGlu