Canonical Allele Identifier: CA915950166

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 818001
• ClinVar RCV Id: RCV001009242
• dbSNP Id: rs1598441446

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032180_46032181del , CM000679.2:g.46032180_46032181del	GRCh38
NC_000017.10:g.44109546_44109547del , CM000679.1:g.44109546_44109547del	GRCh37
NC_000017.9:g.41465393_41465394del	NCBI36
NG_032784.1:g.198194_198195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2956_2957del MANE Select	ENSP00000387393.3:p.Gly986SerfsTer4
ENST00000572904.6:c.2956_2957del	ENSP00000461484.1:p.Gly986SerfsTer4
ENST00000574590.6:c.2953_2954del	ENSP00000461812.2:p.Gly985SerfsTer4
ENST00000575318.6:c.2764_2765del	ENSP00000461299.1:p.Gly922SerfsTer4
ENST00000638275.1:c.2764_2765del	ENSP00000492576.1:p.Gly922SerfsTer4
ENST00000639467.1:c.613_614del	ENSP00000492741.1:p.Gly205SerfsTer4
ENST00000639805.1:n.373_374del
ENST00000648792.1:c.2838-14_2838-13del	ENSP00000497628.1:n.2838-14_2838-13del
ENST00000262419.10:c.2956_2957del	ENSP00000262419.6:p.Gly986SerfsTer4
ENST00000432791.5:c.2953_2954del	ENSP00000387393.2:p.Gly985SerfsTer4
ENST00000572218.5:n.7173_7174del
ENST00000572904.5:c.2956_2957del	ENSP00000461484.1:p.Gly986SerfsTer4
ENST00000573682.1:n.342_343del
ENST00000574590.5:c.2956_2957del	ENSP00000461812.1:p.Gly986SerfsTer4
ENST00000574963.1:n.386_387del
ENST00000575318.5:c.2764_2765del	ENSP00000461299.1:p.Gly922SerfsTer4
ENST00000576870.5:n.928_929del
NM_001193465.1:c.2953_2954del	NP_001180394.1:p.Gly985SerfsTer4
NM_001193466.1:c.2956_2957del	NP_001180395.1:p.Gly986SerfsTer4
NM_015443.3:c.2956_2957del	NP_056258.1:p.Gly986SerfsTer4
XM_006721823.1:c.2956_2957del	XP_006721886.1:p.Gly986SerfsTer4
XM_006721824.2:c.2956_2957del	XP_006721887.1:p.Gly986SerfsTer4
XM_011524628.1:c.2953_2954del	XP_011522930.1:p.Gly985SerfsTer4
XM_011524629.1:c.2854_2855del	XP_011522931.1:p.Gly952SerfsTer4
XM_011524630.1:c.2767_2768del	XP_011522932.1:p.Gly923SerfsTer4
XM_011524631.1:c.2764_2765del	XP_011522933.1:p.Gly922SerfsTer4
XM_011524632.1:c.1726_1727del	XP_011522934.1:p.Gly576SerfsTer4
XM_006721823.2:c.2956_2957del	XP_006721886.1:p.Gly986SerfsTer4
XM_006721824.4:c.2956_2957del	XP_006721887.1:p.Gly986SerfsTer4
XM_011524628.3:c.2953_2954del	XP_011522930.1:p.Gly985SerfsTer4
XM_011524629.3:c.2854_2855del	XP_011522931.1:p.Gly952SerfsTer4
XM_011524630.3:c.2767_2768del	XP_011522932.1:p.Gly923SerfsTer4
XM_011524631.3:c.2764_2765del	XP_011522933.1:p.Gly922SerfsTer4
XM_011524632.3:c.1726_1727del	XP_011522934.1:p.Gly576SerfsTer4
XM_017024488.2:c.2764_2765del	XP_016879977.1:p.Gly922SerfsTer4
NM_001193466.2:c.2956_2957del	NP_001180395.1:p.Gly986SerfsTer4
NM_015443.4:c.2956_2957del MANE Select	NP_056258.1:p.Gly986SerfsTer4
NM_001193465.2:c.2953_2954del	NP_001180394.1:p.Gly985SerfsTer4
NM_001379198.1:c.2956_2957del	NP_001366127.1:p.Gly986SerfsTer4