Canonical Allele Identifier: CA16620459
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418786
ClinVar RCV Id: RCV000484004
dbSNP Id: rs1064793433

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46039849del , CM000679.2:g.46039849del GRCh38
NC_000017.10:g.44117215del , CM000679.1:g.44117215del GRCh37
NC_000017.9:g.41473062del NCBI36
NG_032784.1:g.190528del

Transcript Alleles

HGVS Amino-acid change
ENST00000432791.7:c.2058del MANE Select ENSP00000387393.3:p.Lys686AsnfsTer?
ENST00000572904.6:c.2058del ENSP00000461484.1:p.Lys686AsnfsTer?
ENST00000573286.2:n.3255del
ENST00000574590.6:c.2058del ENSP00000461812.2:p.Lys686AsnfsTer?
ENST00000575318.6:c.2058del ENSP00000461299.1:p.Lys686AsnfsTer?
ENST00000638275.1:c.2058del ENSP00000492576.1:p.Lys686AsnfsTer?
ENST00000639150.1:c.792del ENSP00000491906.1:p.Lys264AsnfsTer?
ENST00000639531.1:c.2058del ENSP00000491765.1:p.Lys686AsnfsTer?
ENST00000639853.1:c.1229del
ENST00000640636.1:c.200del
ENST00000648792.1:c.2058del ENSP00000497628.1:p.Lys686AsnfsTer?
ENST00000262419.10:c.2058del ENSP00000262419.6:p.Lys686AsnfsTer?
ENST00000432791.5:c.2058del ENSP00000387393.2:p.Lys686AsnfsTer?
ENST00000572218.5:n.6275del
ENST00000572904.5:c.2058del ENSP00000461484.1:p.Lys686AsnfsTer?
ENST00000574590.5:c.2058del ENSP00000461812.1:p.Lys686AsnfsTer?
ENST00000575318.5:c.2058del ENSP00000461299.1:p.Lys686AsnfsTer?
ENST00000576870.5:n.219del
NM_001193465.1:c.2058del NP_001180394.1:p.Lys686AsnfsTer?
NM_001193466.1:c.2058del NP_001180395.1:p.Lys686AsnfsTer?
NM_015443.3:c.2058del NP_056258.1:p.Lys686AsnfsTer?
XM_006721823.1:c.2058del XP_006721886.1:p.Lys686AsnfsTer?
XM_006721824.2:c.2058del XP_006721887.1:p.Lys686AsnfsTer?
XM_011524628.1:c.2058del XP_011522930.1:p.Lys686AsnfsTer?
XM_011524629.1:c.1956del XP_011522931.1:p.Lys652AsnfsTer?
XM_011524630.1:c.2058del XP_011522932.1:p.Lys686AsnfsTer?
XM_011524631.1:c.2058del XP_011522933.1:p.Lys686AsnfsTer?
XM_011524632.1:c.828del XP_011522934.1:p.Lys276AsnfsTer?
XM_006721823.2:c.2058del XP_006721886.1:p.Lys686AsnfsTer?
XM_006721824.4:c.2058del XP_006721887.1:p.Lys686AsnfsTer?
XM_011524628.3:c.2058del XP_011522930.1:p.Lys686AsnfsTer?
XM_011524629.3:c.1956del XP_011522931.1:p.Lys652AsnfsTer?
XM_011524630.3:c.2058del XP_011522932.1:p.Lys686AsnfsTer?
XM_011524631.3:c.2058del XP_011522933.1:p.Lys686AsnfsTer?
XM_011524632.3:c.828del XP_011522934.1:p.Lys276AsnfsTer?
XM_017024488.2:c.2058del XP_016879977.1:p.Lys686AsnfsTer?
XM_017024489.1:c.1956del XP_016879978.1:p.Lys652AsnfsTer?
NM_001193466.2:c.2058del NP_001180395.1:p.Lys686AsnfsTer?
NM_015443.4:c.2058del MANE Select NP_056258.1:p.Lys686AsnfsTer?
NM_001193465.2:c.2058del NP_001180394.1:p.Lys686AsnfsTer?
NM_001379198.1:c.2058del NP_001366127.1:p.Lys686AsnfsTer?