Canonical Allele Identifier: CA2499224201

Gene: NF1

Linked Data

• ClinVar Variation Id: 1071916
• ClinVar RCV Id: RCV001384504
• dbSNP Id: rs2151558160

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338067del , CM000679.2:g.31338067del	GRCh38
NC_000017.10:g.29665085del , CM000679.1:g.29665085del	GRCh37
NC_000017.9:g.26689211del	NCBI36
NG_009018.1:g.248091del , LRG_214:g.248091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6729del	ENSP00000512431.1:p.Val2244LeufsTer15
ENST00000684826.1:c.1311del	ENSP00000509994.1:p.Val438LeufsTer15
ENST00000684998.1:n.2005del
ENST00000687027.1:c.903del	ENSP00000508715.1:p.Val302LeufsTer15
ENST00000687863.1:n.3392del
ENST00000691014.1:c.6777del	ENSP00000510595.1:p.Val2260LeufsTer15
ENST00000693617.1:c.1311del	ENSP00000510031.1:p.Val438LeufsTer15
ENST00000358273.9:c.6747del MANE Select	ENSP00000351015.4:p.Val2250LeufsTer15
ENST00000356175.7:c.6684del	ENSP00000348498.3:p.Val2229LeufsTer15
ENST00000358273.8:c.6747del	ENSP00000351015.4:p.Val2250LeufsTer15
ENST00000456735.6:c.5682del	ENSP00000389907.2:p.Val1895LeufsTer15
ENST00000471572.6:c.130del
ENST00000579081.5:c.6883del	ENSP00000462408.1:n.6883del
ENST00000581790.5:c.64+187del
ENST00000584328.1:n.161del
NM_000267.3:c.6684del , LRG_214t1:c.6684del	NP_000258.1:p.Val2229LeufsTer15
NM_001042492.2:c.6747del , LRG_214t2:c.6747del	NP_001035957.1:p.Val2250LeufsTer15
XM_005257983.1:c.6747del	XP_005258040.1:p.Val2250LeufsTer15
XM_005257984.1:c.6684del	XP_005258041.1:p.Val2229LeufsTer15
XM_006721922.1:c.6777del	XP_006721985.1:p.Val2260LeufsTer15
XM_006721923.2:c.6738del	XP_006721986.1:p.Val2247LeufsTer15
XM_006721924.1:c.6777del	XP_006721987.1:p.Val2260LeufsTer15
XM_006721925.1:c.6714del	XP_006721988.1:p.Val2239LeufsTer15
XM_006721926.2:c.6777del	XP_006721989.1:p.Val2260LeufsTer15
XM_006721927.1:c.6777del	XP_006721990.1:p.Val2260LeufsTer15
XM_011524852.1:c.6774del	XP_011523154.1:p.Val2259LeufsTer15
XM_011524853.1:c.6738del	XP_011523155.1:p.Val2247LeufsTer15
XM_011524854.1:c.6738del	XP_011523156.1:p.Val2247LeufsTer15
XM_011524855.1:c.6738del	XP_011523157.1:p.Val2247LeufsTer15
XM_011524856.1:c.6738del	XP_011523158.1:p.Val2247LeufsTer15
XM_011524857.1:c.6777del	XP_011523159.1:p.Val2260LeufsTer15
NM_001042492.3:c.6747del MANE Select	NP_001035957.1:p.Val2250LeufsTer15