Canonical Allele Identifier: CA16620457
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423195
ClinVar RCV Id: RCV000483106
dbSNP Id: rs1064796289

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46033069_46033089del , CM000679.2:g.46033069_46033089del GRCh38
NC_000017.10:g.44110435_44110455del , CM000679.1:g.44110435_44110455del GRCh37
NC_000017.9:g.41466282_41466302del NCBI36
NG_032784.1:g.197288_197308del

Transcript Alleles

HGVS Amino-acid change
ENST00000432791.7:c.2830_2837+13del
ENST00000572904.6:c.2830_2837+13del
ENST00000574590.6:c.2827_2834+13del
ENST00000575318.6:c.2638_2645+13del
ENST00000638275.1:c.2638_2645+13del
ENST00000638291.1:n.658_665+13del
ENST00000638551.1:n.778_785+13del
ENST00000639467.1:c.487_494+13del
ENST00000639531.1:c.2641_2648+13del
ENST00000639805.1:n.247_254+13del
ENST00000640092.1:n.1517_1524+13del
ENST00000640519.1:n.1928_1948del
ENST00000640751.1:n.425_432+13del
ENST00000648792.1:c.2830_2837+13del
ENST00000262419.10:c.2830_2837+13del
ENST00000432791.5:c.2827_2834+13del
ENST00000572218.5:n.7047_7054+13del
ENST00000572904.5:c.2830_2837+13del
ENST00000573682.1:n.216_223+13del
ENST00000574590.5:c.2830_2837+13del
ENST00000575318.5:c.2638_2645+13del
ENST00000576870.5:n.802_809+13del
NM_001193465.1:c.2827_2834+13del
NM_001193466.1:c.2830_2837+13del
NM_015443.3:c.2830_2837+13del
XM_006721823.1:c.2830_2837+13del
XM_006721824.2:c.2830_2837+13del
XM_011524628.1:c.2827_2834+13del
XM_011524629.1:c.2728_2735+13del
XM_011524630.1:c.2641_2648+13del
XM_011524631.1:c.2638_2645+13del
XM_011524632.1:c.1600_1607+13del
XM_006721823.2:c.2830_2837+13del
XM_006721824.4:c.2830_2837+13del
XM_011524628.3:c.2827_2834+13del
XM_011524629.3:c.2728_2735+13del
XM_011524630.3:c.2641_2648+13del
XM_011524631.3:c.2638_2645+13del
XM_011524632.3:c.1600_1607+13del
XM_017024488.2:c.2638_2645+13del
NM_001193466.2:c.2830_2837+13del
NM_015443.4:c.2830_2837+13del
NM_001193465.2:c.2827_2834+13del
NM_001379198.1:c.2830_2837+13del