Canonical Allele Identifier: CA2255556373
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 996431
ClinVar RCV Id: RCV001290839
dbSNP Id: rs2066785835

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31214472del , CM000679.2:g.31214472del GRCh38
NC_000017.10:g.29541490del , CM000679.1:g.29541490del GRCh37
NC_000017.9:g.26565616del NCBI36
NG_009018.1:g.124496del , LRG_214:g.124496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.1459del ENSP00000512431.1:p.Val487Ter
ENST00000686189.1:c.859del ENSP00000509682.1:p.Val287Ter
ENST00000691014.1:c.1444del ENSP00000510595.1:p.Val482Ter
ENST00000358273.9:c.1414del MANE Select ENSP00000351015.4:p.Val472Ter
ENST00000356175.7:c.1414del ENSP00000348498.3:p.Val472Ter
ENST00000358273.8:c.1414del ENSP00000351015.4:p.Val472Ter
ENST00000431387.8:c.1414del ENSP00000412921.4:p.Val472Ter
ENST00000456735.6:c.412del ENSP00000389907.2:p.Val138Ter
ENST00000487476.5:n.1797del
ENST00000495910.6:c.1189del
ENST00000579081.5:c.1516del ENSP00000462408.1:p.Val506Ter
NM_000267.3:c.1414del , LRG_214t1:c.1414del NP_000258.1:p.Val472Ter
NM_001042492.2:c.1414del , LRG_214t2:c.1414del NP_001035957.1:p.Val472Ter
NM_001128147.2:c.1414del NP_001121619.1:p.Val472Ter
XM_005257983.1:c.1414del XP_005258040.1:p.Val472Ter
XM_005257984.1:c.1414del XP_005258041.1:p.Val472Ter
XM_006721922.1:c.1444del XP_006721985.1:p.Val482Ter
XM_006721923.2:c.1405del XP_006721986.1:p.Val469Ter
XM_006721924.1:c.1444del XP_006721987.1:p.Val482Ter
XM_006721925.1:c.1444del XP_006721988.1:p.Val482Ter
XM_006721926.2:c.1444del XP_006721989.1:p.Val482Ter
XM_006721927.1:c.1444del XP_006721990.1:p.Val482Ter
XM_006721928.2:c.1444del XP_006721991.1:p.Val482Ter
XM_011524852.1:c.1444del XP_011523154.1:p.Val482Ter
XM_011524853.1:c.1405del XP_011523155.1:p.Val469Ter
XM_011524854.1:c.1405del XP_011523156.1:p.Val469Ter
XM_011524855.1:c.1405del XP_011523157.1:p.Val469Ter
XM_011524856.1:c.1405del XP_011523158.1:p.Val469Ter
XM_011524857.1:c.1444del XP_011523159.1:p.Val482Ter
NM_001042492.3:c.1414del MANE Select NP_001035957.1:p.Val472Ter
NM_001128147.3:c.1414del NP_001121619.1:p.Val472Ter