Canonical Allele Identifier: CA344393

Gene: SPG11

Linked Data

• ClinVar Variation Id: 41360
• ClinVar RCV Id: RCV000034261
• dbSNP Id: rs312262789
• MyVariant Identifiers: chr15:g.44856807_44856808insTAAT (hg19) ; chr15:g.44564609_44564610insTAAT (hg38)
• PubMed: PMID:18835492 ; PMID:20301389

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44564613_44564616dup , CM000677.2:g.44564613_44564616dup	GRCh38
NC_000015.9:g.44856811_44856814dup , CM000677.1:g.44856811_44856814dup	GRCh37
NC_000015.8:g.42644103_42644106dup	NCBI36
NG_008885.1:g.104066_104069dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.776_779dup	ENSP00000453314.2:p.Tyr260Ter
ENST00000559511.6:c.6608_6611dup	ENSP00000453246.2:p.Tyr2204Ter
ENST00000682065.1:c.6941_6944dup	ENSP00000507025.1:p.Tyr2315Ter
ENST00000682460.1:c.*3342_*3345dup	ENSP00000508334.1:n.*3342_*3345dup
ENST00000682495.1:c.*3577_*3580dup	ENSP00000507166.1:n.*3577_*3580dup
ENST00000682669.1:c.6884_6887dup	ENSP00000507782.1:p.Tyr2296Ter
ENST00000683186.1:c.*3848_*3851dup	ENSP00000507268.1:n.*3848_*3851dup
ENST00000683496.1:c.*727_*730dup	ENSP00000506968.1:n.*727_*730dup
ENST00000683734.1:c.*1035_*1038dup	ENSP00000508319.1:n.*1035_*1038dup
ENST00000683753.1:n.6131_6134dup
ENST00000684038.1:c.*3505_*3508dup	ENSP00000507141.1:n.*3505_*3508dup
ENST00000684235.1:c.7085_7088dup	ENSP00000508295.1:p.Tyr2363Ter
ENST00000261866.12:c.7085_7088dup MANE Select	ENSP00000261866.7:p.Tyr2363Ter
ENST00000261866.11:c.7085_7088dup	ENSP00000261866.7:p.Tyr2363Ter
ENST00000427534.6:c.6755-1312_6755-1309dup	ENSP00000396110.2:n.6755-1312_6755-1309dup
ENST00000535302.6:c.6746_6749dup	ENSP00000445278.2:p.Tyr2250Ter
ENST00000559511.5:c.1456_1459dup
ENST00000560299.1:n.377_380dup
NM_001160227.1:c.6746_6749dup	NP_001153699.1:p.Tyr2250Ter
NM_025137.3:c.7085_7088dup	NP_079413.3:p.Tyr2363Ter
XM_005254695.3:c.6827_6830dup	XP_005254752.1:p.Tyr2277Ter
XM_006720700.1:c.6941_6944dup	XP_006720763.1:p.Tyr2315Ter
XM_017022634.1:c.6977_6980dup	XP_016878123.1:p.Tyr2327Ter
XM_017022636.1:c.3962_3965dup	XP_016878125.1:p.Tyr1322Ter
NM_025137.4:c.7085_7088dup MANE Select	NP_079413.3:p.Tyr2363Ter
NM_001160227.2:c.6746_6749dup	NP_001153699.1:p.Tyr2250Ter