Canonical Allele Identifier: CA915950167

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 817270
• ClinVar RCV Id: RCV001008388
• dbSNP Id: rs1374665357

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032240dup , CM000679.2:g.46032240dup	GRCh38
NC_000017.10:g.44109606dup , CM000679.1:g.44109606dup	GRCh37
NC_000017.9:g.41465453dup	NCBI36
NG_032784.1:g.198140dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2902dup MANE Select	ENSP00000387393.3:p.Gln968ProfsTer6
ENST00000572904.6:c.2902dup	ENSP00000461484.1:p.Gln968ProfsTer6
ENST00000574590.6:c.2899dup	ENSP00000461812.2:p.Gln967ProfsTer6
ENST00000575318.6:c.2710dup	ENSP00000461299.1:p.Gln904ProfsTer6
ENST00000638275.1:c.2710dup	ENSP00000492576.1:p.Gln904ProfsTer6
ENST00000638291.1:n.730dup
ENST00000638551.1:n.850dup
ENST00000639467.1:c.559dup	ENSP00000492741.1:p.Gln187ProfsTer6
ENST00000639805.1:n.319dup
ENST00000648792.1:c.2838-68dup	ENSP00000497628.1:n.2838-68dup
ENST00000262419.10:c.2902dup	ENSP00000262419.6:p.Gln968ProfsTer6
ENST00000432791.5:c.2899dup	ENSP00000387393.2:p.Gln967ProfsTer6
ENST00000572218.5:n.7119dup
ENST00000572904.5:c.2902dup	ENSP00000461484.1:p.Gln968ProfsTer6
ENST00000573682.1:n.288dup
ENST00000574590.5:c.2902dup	ENSP00000461812.1:p.Gln968ProfsTer6
ENST00000574963.1:n.332dup
ENST00000575318.5:c.2710dup	ENSP00000461299.1:p.Gln904ProfsTer6
ENST00000576870.5:n.874dup
NM_001193465.1:c.2899dup	NP_001180394.1:p.Gln967ProfsTer6
NM_001193466.1:c.2902dup	NP_001180395.1:p.Gln968ProfsTer6
NM_015443.3:c.2902dup	NP_056258.1:p.Gln968ProfsTer6
XM_006721823.1:c.2902dup	XP_006721886.1:p.Gln968ProfsTer6
XM_006721824.2:c.2902dup	XP_006721887.1:p.Gln968ProfsTer6
XM_011524628.1:c.2899dup	XP_011522930.1:p.Gln967ProfsTer6
XM_011524629.1:c.2800dup	XP_011522931.1:p.Gln934ProfsTer6
XM_011524630.1:c.2713dup	XP_011522932.1:p.Gln905ProfsTer6
XM_011524631.1:c.2710dup	XP_011522933.1:p.Gln904ProfsTer6
XM_011524632.1:c.1672dup	XP_011522934.1:p.Gln558ProfsTer6
XM_006721823.2:c.2902dup	XP_006721886.1:p.Gln968ProfsTer6
XM_006721824.4:c.2902dup	XP_006721887.1:p.Gln968ProfsTer6
XM_011524628.3:c.2899dup	XP_011522930.1:p.Gln967ProfsTer6
XM_011524629.3:c.2800dup	XP_011522931.1:p.Gln934ProfsTer6
XM_011524630.3:c.2713dup	XP_011522932.1:p.Gln905ProfsTer6
XM_011524631.3:c.2710dup	XP_011522933.1:p.Gln904ProfsTer6
XM_011524632.3:c.1672dup	XP_011522934.1:p.Gln558ProfsTer6
XM_017024488.2:c.2710dup	XP_016879977.1:p.Gln904ProfsTer6
NM_001193466.2:c.2902dup	NP_001180395.1:p.Gln968ProfsTer6
NM_015443.4:c.2902dup MANE Select	NP_056258.1:p.Gln968ProfsTer6
NM_001193465.2:c.2899dup	NP_001180394.1:p.Gln967ProfsTer6
NM_001379198.1:c.2902dup	NP_001366127.1:p.Gln968ProfsTer6