Canonical Allele Identifier: CA16619924
Gene: KNL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423391
ClinVar RCV Id: RCV000479917
dbSNP Id: rs1064796397
MyVariant Identifiers: chr15:g.40943760del (hg19) chr15:g.40651562del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40651562del , CM000677.2:g.40651562del GRCh38
NC_000015.9:g.40943760del , CM000677.1:g.40943760del GRCh37
NC_000015.8:g.38731052del NCBI36
NG_033114.1:g.62314del

Transcript Alleles

HGVS Amino-acid change
ENST00000399668.7:c.6304del MANE Select ENSP00000382576.3:p.Asp2102IlefsTer3
ENST00000346991.9:c.6382del ENSP00000335463.6:p.Asp2128IlefsTer3
ENST00000399668.6:c.6304del ENSP00000382576.2:p.Asp2102IlefsTer3
ENST00000526913.5:c.3437del
ENST00000532347.1:n.384del
NM_144508.4:c.6304del NP_653091.3:p.Asp2102IlefsTer3
NM_170589.4:c.6382del NP_733468.3:p.Asp2128IlefsTer3
XM_011521816.1:c.5980del XP_011520118.1:p.Asp1994IlefsTer3
XM_011521817.1:c.6304del XP_011520119.1:p.Asp2102IlefsTer3
XM_017022432.1:c.5980del XP_016877921.1:p.Asp1994IlefsTer3
NM_144508.5:c.6304del MANE Select NP_653091.3:p.Asp2102IlefsTer3
NM_170589.5:c.6382del NP_733468.3:p.Asp2128IlefsTer3
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