Canonical Allele Identifier: CA8945437

Gene: SETBP1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.44876705_44876706insTCTT , CM000680.2:g.44876705_44876706insTCTT	GRCh38
NC_000018.9:g.42456670_42456671insTCTT , CM000680.1:g.42456670_42456671insTCTT	GRCh37
NC_000018.8:g.40710668_40710669insTCTT	NCBI36
NG_027527.1:g.201533_201534insTCTT
NG_027527.2:g.201533_201534insTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649279.2:c.540+7422_540+7423insTCTT MANE Select	ENSP00000497406.1:n.540+7422_540+7423insTCTT
ENST00000677068.1:c.540+7422_540+7423insTCTT	ENSP00000504398.1:n.540+7422_540+7423insTCTT
ENST00000677077.1:c.540+7422_540+7423insTCTT	ENSP00000503656.1:n.540+7422_540+7423insTCTT
ENST00000677130.1:c.540+7422_540+7423insTCTT	ENSP00000503094.1:n.540+7422_540+7423insTCTT
ENST00000677699.1:c.540+7422_540+7423insTCTT	ENSP00000503964.1:n.540+7422_540+7423insTCTT
ENST00000678152.1:c.540+7422_540+7423insTCTT	ENSP00000502995.1:n.540+7422_540+7423insTCTT
ENST00000282030.5:c.540+7422_540+7423insTCTT	ENSP00000282030.5:n.540+7422_540+7423insTCTT
ENST00000426838.8:c.681_682insTCTT	ENSP00000390687.3:p.Thr228SerfsTer8
NM_001130110.1:c.681_682insTCTT	NP_001123582.1:p.Thr228SerfsTer8
NM_015559.2:c.540+7422_540+7423insTCTT	NP_056374.2:n.540+7422_540+7423insTCTT
XM_005258243.3:c.540+7422_540+7423insTCTT	XP_005258300.1:n.540+7422_540+7423insTCTT
NM_015559.3:c.540+7422_540+7423insTCTT MANE Select	NP_056374.2:n.540+7422_540+7423insTCTT
XM_024451149.1:c.618+7422_618+7423insTCTT	XP_024306917.1:n.618+7422_618+7423insTCTT
XM_024451150.1:c.618+7422_618+7423insTCTT	XP_024306918.1:n.618+7422_618+7423insTCTT
XM_024451151.1:c.618+7422_618+7423insTCTT	XP_024306919.1:n.618+7422_618+7423insTCTT
XM_024451152.1:c.618+7422_618+7423insTCTT	XP_024306920.1:n.618+7422_618+7423insTCTT
XM_024451153.1:c.540+7422_540+7423insTCTT	XP_024306921.1:n.540+7422_540+7423insTCTT
XM_024451154.1:c.540+7422_540+7423insTCTT	XP_024306922.1:n.540+7422_540+7423insTCTT
XM_024451155.1:c.540+7422_540+7423insTCTT	XP_024306923.1:n.540+7422_540+7423insTCTT
XM_024451156.1:c.618+7422_618+7423insTCTT	XP_024306924.1:n.618+7422_618+7423insTCTT
XM_024451157.1:c.63+7422_63+7423insTCTT	XP_024306925.1:n.63+7422_63+7423insTCTT
XM_024451158.1:c.618+7422_618+7423insTCTT	XP_024306926.1:n.618+7422_618+7423insTCTT
NM_001130110.2:c.681_682insTCTT	NP_001123582.1:p.Thr228SerfsTer8
NM_001379141.1:c.540+7422_540+7423insTCTT	NP_001366070.1:n.540+7422_540+7423insTCTT
NM_001379142.1:c.540+7422_540+7423insTCTT	NP_001366071.1:n.540+7422_540+7423insTCTT