Canonical Allele Identifier: CA10580230
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 233017
dbSNP Id: rs876660135

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31221922del , CM000679.2:g.31221922del GRCh38
NC_000017.10:g.29548940del , CM000679.1:g.29548940del GRCh37
NC_000017.9:g.26573066del NCBI36
NG_009018.1:g.131946del , LRG_214:g.131946del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.1759del ENSP00000512431.1:p.Glu587ArgfsTer14
ENST00000686189.1:c.1159del ENSP00000509682.1:p.Glu387ArgfsTer10
ENST00000691014.1:c.1744del ENSP00000510595.1:p.Glu582ArgfsTer14
ENST00000358273.9:c.1714del MANE Select ENSP00000351015.4:p.Glu572ArgfsTer14
ENST00000356175.7:c.1714del ENSP00000348498.3:p.Glu572ArgfsTer14
ENST00000358273.8:c.1714del ENSP00000351015.4:p.Glu572ArgfsTer14
ENST00000431387.8:c.1714del ENSP00000412921.4:p.Glu572ArgfsTer10
ENST00000456735.6:c.712del ENSP00000389907.2:p.Glu238ArgfsTer14
ENST00000495910.6:c.1489del
ENST00000579081.5:c.1816del ENSP00000462408.1:p.Glu606ArgfsTer14
NM_000267.3:c.1714del , LRG_214t1:c.1714del NP_000258.1:p.Glu572ArgfsTer14
NM_001042492.2:c.1714del , LRG_214t2:c.1714del NP_001035957.1:p.Glu572ArgfsTer14
NM_001128147.2:c.1714del NP_001121619.1:p.Glu572ArgfsTer10
XM_005257983.1:c.1714del XP_005258040.1:p.Glu572ArgfsTer14
XM_005257984.1:c.1714del XP_005258041.1:p.Glu572ArgfsTer14
XM_006721922.1:c.1744del XP_006721985.1:p.Glu582ArgfsTer14
XM_006721923.2:c.1705del XP_006721986.1:p.Glu569ArgfsTer14
XM_006721924.1:c.1744del XP_006721987.1:p.Glu582ArgfsTer14
XM_006721925.1:c.1744del XP_006721988.1:p.Glu582ArgfsTer14
XM_006721926.2:c.1744del XP_006721989.1:p.Glu582ArgfsTer14
XM_006721927.1:c.1744del XP_006721990.1:p.Glu582ArgfsTer14
XM_006721928.2:c.1744del XP_006721991.1:p.Glu582ArgfsTer14
XM_011524852.1:c.1744del XP_011523154.1:p.Glu582ArgfsTer14
XM_011524853.1:c.1705del XP_011523155.1:p.Glu569ArgfsTer14
XM_011524854.1:c.1705del XP_011523156.1:p.Glu569ArgfsTer14
XM_011524855.1:c.1705del XP_011523157.1:p.Glu569ArgfsTer14
XM_011524856.1:c.1705del XP_011523158.1:p.Glu569ArgfsTer14
XM_011524857.1:c.1744del XP_011523159.1:p.Glu582ArgfsTer14
NM_001042492.3:c.1714del MANE Select NP_001035957.1:p.Glu572ArgfsTer14
NM_001128147.3:c.1714del NP_001121619.1:p.Glu572ArgfsTer10