Canonical Allele Identifier: CA658799040

Gene: SETBP1

Linked Data

• ClinVar Variation Id: 524046
• ClinVar RCV Id: RCV000627541
• dbSNP Id: rs1555706499
• MyVariant Identifiers: chr18:g.42530966del (hg19) ; chr18:g.44951001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.44951001del , CM000680.2:g.44951001del	GRCh38
NC_000018.9:g.42530966del , CM000680.1:g.42530966del	GRCh37
NC_000018.8:g.40784964del	NCBI36
NG_027527.1:g.275829del
NG_027527.2:g.275829del

Transcript Alleles

HGVS	Amino-acid change
ENST00000649279.2:c.1661del MANE Select	ENSP00000497406.1:p.Leu554ArgfsTer26
ENST00000677068.1:c.1661del	ENSP00000504398.1:p.Leu554ArgfsTer26
ENST00000677077.1:c.1661del	ENSP00000503656.1:p.Leu554ArgfsTer26
ENST00000677130.1:c.1661del	ENSP00000503094.1:p.Leu554ArgfsTer26
ENST00000677699.1:c.1661del	ENSP00000503964.1:p.Leu554ArgfsTer26
ENST00000678152.1:c.1661del	ENSP00000502995.1:p.Leu554ArgfsTer26
ENST00000282030.5:c.1661del	ENSP00000282030.5:p.Leu554ArgfsTer26
NM_015559.2:c.1661del	NP_056374.2:p.Leu554ArgfsTer26
XM_005258243.3:c.1661del	XP_005258300.1:p.Leu554ArgfsTer26
NM_015559.3:c.1661del MANE Select	NP_056374.2:p.Leu554ArgfsTer26
XM_024451149.1:c.1739del	XP_024306917.1:p.Leu580ArgfsTer26
XM_024451150.1:c.1739del	XP_024306918.1:p.Leu580ArgfsTer26
XM_024451151.1:c.1739del	XP_024306919.1:p.Leu580ArgfsTer26
XM_024451152.1:c.1739del	XP_024306920.1:p.Leu580ArgfsTer26
XM_024451153.1:c.1661del	XP_024306921.1:p.Leu554ArgfsTer26
XM_024451154.1:c.1661del	XP_024306922.1:p.Leu554ArgfsTer26
XM_024451155.1:c.1661del	XP_024306923.1:p.Leu554ArgfsTer26
XM_024451156.1:c.1739del	XP_024306924.1:p.Leu580ArgfsTer26
XM_024451157.1:c.1184del	XP_024306925.1:p.Leu395ArgfsTer26
XM_024451158.1:c.1739del	XP_024306926.1:p.Leu580ArgfsTer26
NM_001379141.1:c.1661del	NP_001366070.1:p.Leu554ArgfsTer26
NM_001379142.1:c.1661del	NP_001366071.1:p.Leu554ArgfsTer26