Canonical Allele Identifier: CA2573153308

Gene: NF1

Linked Data

• ClinVar Variation Id: 1414925
• ClinVar RCV Id: RCV001930711
• dbSNP Id: rs2151429354

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229265_31229272del , CM000679.2:g.31229265_31229272del	GRCh38
NC_000017.10:g.29556283_29556290del , CM000679.1:g.29556283_29556290del	GRCh37
NC_000017.9:g.26580409_26580416del	NCBI36
NG_009018.1:g.139289_139296del , LRG_214:g.139289_139296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2695_2702del	ENSP00000512431.1:p.Glu899ArgfsTer19
ENST00000691014.1:c.2680_2687del	ENSP00000510595.1:p.Glu894ArgfsTer19
ENST00000358273.9:c.2650_2657del MANE Select	ENSP00000351015.4:p.Glu884ArgfsTer19
ENST00000356175.7:c.2650_2657del	ENSP00000348498.3:p.Glu884ArgfsTer19
ENST00000358273.8:c.2650_2657del	ENSP00000351015.4:p.Glu884ArgfsTer19
ENST00000456735.6:c.1648_1655del	ENSP00000389907.2:p.Glu550ArgfsTer19
ENST00000493220.5:n.817_824del
ENST00000495910.6:c.2425_2432del
ENST00000579081.5:c.2752_2759del	ENSP00000462408.1:p.Glu918ArgfsTer19
NM_000267.3:c.2650_2657del , LRG_214t1:c.2650_2657del	NP_000258.1:p.Glu884ArgfsTer19
NM_001042492.2:c.2650_2657del , LRG_214t2:c.2650_2657del	NP_001035957.1:p.Glu884ArgfsTer19
XM_005257983.1:c.2650_2657del	XP_005258040.1:p.Glu884ArgfsTer19
XM_005257984.1:c.2650_2657del	XP_005258041.1:p.Glu884ArgfsTer19
XM_006721922.1:c.2680_2687del	XP_006721985.1:p.Glu894ArgfsTer19
XM_006721923.2:c.2641_2648del	XP_006721986.1:p.Glu881ArgfsTer19
XM_006721924.1:c.2680_2687del	XP_006721987.1:p.Glu894ArgfsTer19
XM_006721925.1:c.2680_2687del	XP_006721988.1:p.Glu894ArgfsTer19
XM_006721926.2:c.2680_2687del	XP_006721989.1:p.Glu894ArgfsTer19
XM_006721927.1:c.2680_2687del	XP_006721990.1:p.Glu894ArgfsTer19
XM_006721928.2:c.2680_2687del	XP_006721991.1:p.Glu894ArgfsTer19
XM_011524852.1:c.2677_2684del	XP_011523154.1:p.Glu893ArgfsTer19
XM_011524853.1:c.2641_2648del	XP_011523155.1:p.Glu881ArgfsTer19
XM_011524854.1:c.2641_2648del	XP_011523156.1:p.Glu881ArgfsTer19
XM_011524855.1:c.2641_2648del	XP_011523157.1:p.Glu881ArgfsTer19
XM_011524856.1:c.2641_2648del	XP_011523158.1:p.Glu881ArgfsTer19
XM_011524857.1:c.2680_2687del	XP_011523159.1:p.Glu894ArgfsTer19
NM_001042492.3:c.2650_2657del MANE Select	NP_001035957.1:p.Glu884ArgfsTer19