Canonical Allele Identifier: CA8618954
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 468412
dbSNP Id: rs551541795

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46171335_46171336del , CM000679.2:g.46171335_46171336del GRCh38
NC_000017.10:g.44248701_44248702del , CM000679.1:g.44248701_44248702del GRCh37
NC_000017.9:g.41604478_41604479del NCBI36
NG_032784.1:g.59039_59040del

Transcript Alleles

HGVS Amino-acid change
ENST00000432791.7:c.808_809del MANE Select ENSP00000387393.3:p.Leu270ValfsTer11
ENST00000571698.2:c.808_809del ENSP00000459330.2:p.Leu270ValfsTer11
ENST00000572904.6:c.808_809del ENSP00000461484.1:p.Leu270ValfsTer11
ENST00000574590.6:c.808_809del ENSP00000461812.2:p.Leu270ValfsTer11
ENST00000574655.6:n.1062_1063del
ENST00000575318.6:c.808_809del ENSP00000461299.1:p.Leu270ValfsTer11
ENST00000638269.1:n.1052_1053del
ENST00000638275.1:c.808_809del ENSP00000492576.1:p.Leu270ValfsTer11
ENST00000638902.1:n.912_913del
ENST00000639099.1:n.1058_1059del
ENST00000639150.1:c.23+52335_23+52336del ENSP00000491906.1:p.=
ENST00000639356.1:n.1058_1059del
ENST00000639375.1:n.1046_1047del
ENST00000639531.1:c.808_809del ENSP00000491765.1:p.Leu270ValfsTer11
ENST00000639853.1:n.81_82del
ENST00000648792.1:c.808_809del ENSP00000497628.1:p.Leu270ValfsTer11
ENST00000262419.10:c.808_809del ENSP00000262419.6:p.Leu270ValfsTer11
ENST00000432791.5:c.808_809del ENSP00000387393.2:p.Leu270ValfsTer11
ENST00000572904.5:c.808_809del ENSP00000461484.1:p.Leu270ValfsTer11
ENST00000574590.5:c.808_809del ENSP00000461812.1:p.Leu270ValfsTer11
ENST00000575318.5:c.808_809del ENSP00000461299.1:p.Leu270ValfsTer11
NM_001193465.1:c.808_809del NP_001180394.1:p.Leu270ValfsTer11
NM_001193466.1:c.808_809del NP_001180395.1:p.Leu270ValfsTer11
NM_015443.3:c.808_809del NP_056258.1:p.Leu270ValfsTer11
XM_006721823.1:c.808_809del XP_006721886.1:p.Leu270ValfsTer11
XM_006721824.2:c.808_809del XP_006721887.1:p.Leu270ValfsTer11
XM_011524628.1:c.808_809del XP_011522930.1:p.Leu270ValfsTer11
XM_011524629.1:c.808_809del XP_011522931.1:p.Leu270ValfsTer11
XM_011524630.1:c.808_809del XP_011522932.1:p.Leu270ValfsTer11
XM_011524631.1:c.808_809del XP_011522933.1:p.Leu270ValfsTer11
XM_006721823.2:c.808_809del XP_006721886.1:p.Leu270ValfsTer11
XM_006721824.4:c.808_809del XP_006721887.1:p.Leu270ValfsTer11
XM_011524628.3:c.808_809del XP_011522930.1:p.Leu270ValfsTer11
XM_011524629.3:c.808_809del XP_011522931.1:p.Leu270ValfsTer11
XM_011524630.3:c.808_809del XP_011522932.1:p.Leu270ValfsTer11
XM_011524631.3:c.808_809del XP_011522933.1:p.Leu270ValfsTer11
XM_017024488.2:c.808_809del XP_016879977.1:p.Leu270ValfsTer11
XM_017024489.1:c.808_809del XP_016879978.1:p.Leu270ValfsTer11
NM_001193466.2:c.808_809del NP_001180395.1:p.Leu270ValfsTer11
NM_015443.4:c.808_809del MANE Select NP_056258.1:p.Leu270ValfsTer11
NM_001193465.2:c.808_809del NP_001180394.1:p.Leu270ValfsTer11
NM_001379198.1:c.808_809del NP_001366127.1:p.Leu270ValfsTer11