Canonical Allele Identifier: CA276146

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 209164
• ClinVar RCV Id: RCV000191097
• dbSNP Id: rs797045049
• MyVariant Identifiers: chr17:g.44109035del (hg19) ; chr17:g.46031669del (hg38)
• PubMed: PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031669del , CM000679.2:g.46031669del	GRCh38
NC_000017.10:g.44109035del , CM000679.1:g.44109035del	GRCh37
NC_000017.9:g.41464882del	NCBI36
NG_032784.1:g.198706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3125del MANE Select	ENSP00000387393.3:p.Leu1042ArgfsTer?
ENST00000572904.6:c.3125del	ENSP00000461484.1:p.Leu1042ArgfsTer?
ENST00000574590.6:c.3122del	ENSP00000461812.2:p.Leu1041ArgfsTer?
ENST00000575318.6:c.2933del	ENSP00000461299.1:p.Leu978ArgfsTer?
ENST00000638275.1:c.2933del	ENSP00000492576.1:p.Leu978ArgfsTer?
ENST00000639805.1:n.542del
ENST00000648792.1:c.2993del	ENSP00000497628.1:p.Leu998ArgfsTer?
ENST00000262419.10:c.3125del	ENSP00000262419.6:p.Leu1042ArgfsTer?
ENST00000432791.5:c.3122del	ENSP00000387393.2:p.Leu1041ArgfsTer?
ENST00000572218.5:n.7342del
ENST00000572904.5:c.3125del	ENSP00000461484.1:p.Leu1042ArgfsTer?
ENST00000574590.5:c.3125del	ENSP00000461812.1:p.Leu1042ArgfsTer?
ENST00000574963.1:n.898del
ENST00000575318.5:c.2933del	ENSP00000461299.1:p.Leu978ArgfsTer?
ENST00000576870.5:n.1097del
NM_001193465.1:c.3122del	NP_001180394.1:p.Leu1041ArgfsTer?
NM_001193466.1:c.3125del	NP_001180395.1:p.Leu1042ArgfsTer?
NM_015443.3:c.3125del	NP_056258.1:p.Leu1042ArgfsTer?
XM_006721823.1:c.3125del	XP_006721886.1:p.Leu1042ArgfsTer?
XM_006721824.2:c.3125del	XP_006721887.1:p.Leu1042ArgfsTer?
XM_011524628.1:c.3122del	XP_011522930.1:p.Leu1041ArgfsTer?
XM_011524629.1:c.3023del	XP_011522931.1:p.Leu1008ArgfsTer?
XM_011524630.1:c.2936del	XP_011522932.1:p.Leu979ArgfsTer?
XM_011524631.1:c.2933del	XP_011522933.1:p.Leu978ArgfsTer?
XM_011524632.1:c.1895del	XP_011522934.1:p.Leu632ArgfsTer?
XM_006721823.2:c.3125del	XP_006721886.1:p.Leu1042ArgfsTer?
XM_006721824.4:c.3125del	XP_006721887.1:p.Leu1042ArgfsTer?
XM_011524628.3:c.3122del	XP_011522930.1:p.Leu1041ArgfsTer?
XM_011524629.3:c.3023del	XP_011522931.1:p.Leu1008ArgfsTer?
XM_011524630.3:c.2936del	XP_011522932.1:p.Leu979ArgfsTer?
XM_011524631.3:c.2933del	XP_011522933.1:p.Leu978ArgfsTer?
XM_011524632.3:c.1895del	XP_011522934.1:p.Leu632ArgfsTer?
XM_017024488.2:c.2933del	XP_016879977.1:p.Leu978ArgfsTer?
NM_001193466.2:c.3125del	NP_001180395.1:p.Leu1042ArgfsTer?
NM_015443.4:c.3125del MANE Select	NP_056258.1:p.Leu1042ArgfsTer?
NM_001193465.2:c.3122del	NP_001180394.1:p.Leu1041ArgfsTer?
NM_001379198.1:c.3125del	NP_001366127.1:p.Leu1042ArgfsTer?