Canonical Allele Identifier: CA16615293
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404495
ClinVar RCV Id: RCV000472352
dbSNP Id: rs1060500300

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31349250del , CM000679.2:g.31349250del GRCh38
NC_000017.10:g.29676268del , CM000679.1:g.29676268del GRCh37
NC_000017.9:g.26700394del NCBI36
NG_009018.1:g.259274del , LRG_214:g.259274del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.7302del ENSP00000512431.1:p.Ala2435LeufsTer15
ENST00000684826.1:c.1884del ENSP00000509994.1:p.Ala629LeufsTer15
ENST00000687027.1:c.1476del ENSP00000508715.1:p.Ala493LeufsTer15
ENST00000687863.1:n.3965del
ENST00000689464.1:c.370del
ENST00000691014.1:c.7350del ENSP00000510595.1:p.Ala2451LeufsTer15
ENST00000693617.1:c.1884del ENSP00000510031.1:p.Ala629LeufsTer15
ENST00000358273.9:c.7320del MANE Select ENSP00000351015.4:p.Ala2441LeufsTer15
ENST00000356175.7:c.7257del ENSP00000348498.3:p.Ala2420LeufsTer15
ENST00000358273.8:c.7320del ENSP00000351015.4:p.Ala2441LeufsTer15
ENST00000456735.6:c.6255del ENSP00000389907.2:p.Ala2086LeufsTer15
ENST00000471572.6:c.703del
ENST00000579081.5:c.7456del ENSP00000462408.1:n.7456del
ENST00000581790.5:c.463del
NM_000267.3:c.7257del , LRG_214t1:c.7257del NP_000258.1:p.Ala2420LeufsTer15
NM_001042492.2:c.7320del , LRG_214t2:c.7320del NP_001035957.1:p.Ala2441LeufsTer15
XM_005257983.1:c.7320del XP_005258040.1:p.Ala2441LeufsTer15
XM_005257984.1:c.7257del XP_005258041.1:p.Ala2420LeufsTer15
XM_006721922.1:c.7350del XP_006721985.1:p.Ala2451LeufsTer15
XM_006721923.2:c.7311del XP_006721986.1:p.Ala2438LeufsTer15
XM_006721924.1:c.7350del XP_006721987.1:p.Ala2451LeufsTer15
XM_006721925.1:c.7287del XP_006721988.1:p.Ala2430LeufsTer15
XM_006721926.2:c.7350del XP_006721989.1:p.Ala2451LeufsTer15
XM_006721927.1:c.7350del XP_006721990.1:p.Ala2451LeufsTer15
XM_011524852.1:c.7347del XP_011523154.1:p.Ala2450LeufsTer15
XM_011524853.1:c.7311del XP_011523155.1:p.Ala2438LeufsTer15
XM_011524854.1:c.7311del XP_011523156.1:p.Ala2438LeufsTer15
XM_011524855.1:c.7311del XP_011523157.1:p.Ala2438LeufsTer15
XM_011524856.1:c.7311del XP_011523158.1:p.Ala2438LeufsTer15
XM_011524857.1:c.7350del XP_011523159.1:p.Ala2451LeufsTer15
NM_001042492.3:c.7320del MANE Select NP_001035957.1:p.Ala2441LeufsTer15