Canonical Allele Identifier: CA16612181
Gene: SPAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411002
ClinVar RCV Id: RCV000458533
dbSNP Id: rs1060503107
MyVariant Identifiers: chr8:g.101190068_101190069del (hg19) chr8:g.100177840_100177841del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.100177840_100177841del , CM000670.2:g.100177840_100177841del GRCh38
NC_000008.10:g.101190068_101190069del , CM000670.1:g.101190068_101190069del GRCh37
NC_000008.9:g.101259244_101259245del NCBI36
NG_033834.1:g.24806_24807del
NG_033834.2:g.24806_24807del

Transcript Alleles

HGVS Amino-acid change
ENST00000388798.7:c.325_326del MANE Select ENSP00000373450.3:p.Glu109ArgfsTer3
ENST00000251809.4:c.325_326del ENSP00000251809.3:p.Glu109ArgfsTer3
ENST00000388798.6:c.325_326del ENSP00000373450.2:p.Glu109ArgfsTer3
ENST00000520508.5:c.325_326del ENSP00000428070.1:p.Glu109ArgfsTer3
ENST00000520643.5:c.325_326del ENSP00000427716.1:p.Glu109ArgfsTer3
NM_003114.4:c.325_326del NP_003105.2:p.Glu109ArgfsTer3
NM_172218.2:c.325_326del NP_757367.1:p.Glu109ArgfsTer3
XM_011517240.1:c.325_326del XP_011515542.1:p.Glu109ArgfsTer3
XM_011517241.1:c.325_326del XP_011515543.1:p.Glu109ArgfsTer3
XM_011517242.1:c.325_326del XP_011515544.1:p.Glu109ArgfsTer3
XM_011517243.1:c.325_326del XP_011515545.1:p.Glu109ArgfsTer3
XM_011517244.1:c.325_326del XP_011515546.1:p.Glu109ArgfsTer3
XM_011517245.1:c.325_326del XP_011515547.1:p.Glu109ArgfsTer3
XM_011517240.2:c.325_326del XP_011515542.1:p.Glu109ArgfsTer3
XM_011517241.2:c.325_326del XP_011515543.1:p.Glu109ArgfsTer3
XM_011517242.2:c.325_326del XP_011515544.1:p.Glu109ArgfsTer3
XM_011517243.2:c.325_326del XP_011515545.1:p.Glu109ArgfsTer3
XM_011517245.2:c.325_326del XP_011515547.1:p.Glu109ArgfsTer3
XM_017013754.1:c.430_431del XP_016869243.1:p.Glu144ArgfsTer3
XM_017013755.1:c.-12_-11del XP_016869244.1:n.-12_-11del
XR_001745580.1:n.411_412del
XR_001745581.1:n.411_412del
XR_001745582.1:n.411_412del
XR_001745583.1:n.411_412del
NM_001374321.1:c.325_326del NP_001361250.1:p.Glu109ArgfsTer3
NM_003114.5:c.325_326del MANE Select NP_003105.2:p.Glu109ArgfsTer3
NM_172218.3:c.325_326del NP_757367.1:p.Glu109ArgfsTer3
Search 100 bp 5'
Search 100 bp 3'