Canonical Allele Identifier: CA626333360

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 565273
• ClinVar RCV Id: RCV000684749
• dbSNP Id: rs1374665357
• gnomAD v2: 17-44109600-TG-T
• gnomAD v4: 17-46032234-TG-T
• COSMIC: COSM4694015
• MyVariant Identifiers: chr17:g.44109601del (hg19) ; chr17:g.46032235del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2902del MANE Select	ENSP00000387393.3:p.Gln968SerfsTer?
ENST00000572904.6:c.2902del	ENSP00000461484.1:p.Gln968SerfsTer?
ENST00000574590.6:c.2899del	ENSP00000461812.2:p.Gln967SerfsTer?
ENST00000575318.6:c.2710del	ENSP00000461299.1:p.Gln904SerfsTer?
ENST00000638275.1:c.2710del	ENSP00000492576.1:p.Gln904SerfsTer?
ENST00000638291.1:n.730del
ENST00000638551.1:n.850del
ENST00000639467.1:c.559del	ENSP00000492741.1:p.Gln187SerfsTer?
ENST00000639805.1:n.319del
ENST00000648792.1:c.2838-68del	ENSP00000497628.1:n.2838-68del
ENST00000262419.10:c.2902del	ENSP00000262419.6:p.Gln968SerfsTer?
ENST00000432791.5:c.2899del	ENSP00000387393.2:p.Gln967SerfsTer?
ENST00000572218.5:n.7119del
ENST00000572904.5:c.2902del	ENSP00000461484.1:p.Gln968SerfsTer?
ENST00000573682.1:n.288del
ENST00000574590.5:c.2902del	ENSP00000461812.1:p.Gln968SerfsTer?
ENST00000574963.1:n.332del
ENST00000575318.5:c.2710del	ENSP00000461299.1:p.Gln904SerfsTer?
ENST00000576870.5:n.874del
NM_001193465.1:c.2899del	NP_001180394.1:p.Gln967SerfsTer?
NM_001193466.1:c.2902del	NP_001180395.1:p.Gln968SerfsTer?
NM_015443.3:c.2902del	NP_056258.1:p.Gln968SerfsTer?
XM_006721823.1:c.2902del	XP_006721886.1:p.Gln968SerfsTer?
XM_006721824.2:c.2902del	XP_006721887.1:p.Gln968SerfsTer?
XM_011524628.1:c.2899del	XP_011522930.1:p.Gln967SerfsTer?
XM_011524629.1:c.2800del	XP_011522931.1:p.Gln934SerfsTer?
XM_011524630.1:c.2713del	XP_011522932.1:p.Gln905SerfsTer?
XM_011524631.1:c.2710del	XP_011522933.1:p.Gln904SerfsTer?
XM_011524632.1:c.1672del	XP_011522934.1:p.Gln558SerfsTer?
XM_006721823.2:c.2902del	XP_006721886.1:p.Gln968SerfsTer?
XM_006721824.4:c.2902del	XP_006721887.1:p.Gln968SerfsTer?
XM_011524628.3:c.2899del	XP_011522930.1:p.Gln967SerfsTer?
XM_011524629.3:c.2800del	XP_011522931.1:p.Gln934SerfsTer?
XM_011524630.3:c.2713del	XP_011522932.1:p.Gln905SerfsTer?
XM_011524631.3:c.2710del	XP_011522933.1:p.Gln904SerfsTer?
XM_011524632.3:c.1672del	XP_011522934.1:p.Gln558SerfsTer?
XM_017024488.2:c.2710del	XP_016879977.1:p.Gln904SerfsTer?
NM_001193466.2:c.2902del	NP_001180395.1:p.Gln968SerfsTer?
NM_015443.4:c.2902del MANE Select	NP_056258.1:p.Gln968SerfsTer?
NM_001193465.2:c.2899del	NP_001180394.1:p.Gln967SerfsTer?
NM_001379198.1:c.2902del	NP_001366127.1:p.Gln968SerfsTer?