Canonical Allele Identifier: CA16615291
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404562
ClinVar RCV Id: RCV000472691 RCV002356637
dbSNP Id: rs1060500349
MyVariant Identifiers: chr17:g.29661968del (hg19) chr17:g.31334950del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31334950del , CM000679.2:g.31334950del GRCh38
NC_000017.10:g.29661968del , CM000679.1:g.29661968del GRCh37
NC_000017.9:g.26686094del NCBI36
NG_009018.1:g.244974del , LRG_214:g.244974del

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.2113del ENSP00000492721.2:n.2113del
ENST00000696138.1:c.5907del ENSP00000512431.1:p.Asp1970ThrfsTer3
ENST00000684826.1:c.489del ENSP00000509994.1:p.Asp164ThrfsTer3
ENST00000687027.1:c.81del ENSP00000508715.1:p.Asp28ThrfsTer3
ENST00000687863.1:n.2570del
ENST00000691014.1:c.5955del ENSP00000510595.1:p.Asp1986ThrfsTer3
ENST00000693617.1:c.489del ENSP00000510031.1:p.Asp164ThrfsTer3
ENST00000358273.9:c.5925del MANE Select ENSP00000351015.4:p.Asp1976ThrfsTer3
ENST00000356175.7:c.5862del ENSP00000348498.3:p.Asp1955ThrfsTer3
ENST00000358273.8:c.5925del ENSP00000351015.4:p.Asp1976ThrfsTer3
ENST00000456735.6:c.4860del ENSP00000389907.2:p.Asp1621ThrfsTer3
ENST00000479536.2:c.350del
ENST00000579081.5:c.6061del ENSP00000462408.1:n.6061del
ENST00000581113.6:n.1242del
NM_000267.3:c.5862del , LRG_214t1:c.5862del NP_000258.1:p.Asp1955ThrfsTer3
NM_001042492.2:c.5925del , LRG_214t2:c.5925del NP_001035957.1:p.Asp1976ThrfsTer3
XM_005257983.1:c.5925del XP_005258040.1:p.Asp1976ThrfsTer3
XM_005257984.1:c.5862del XP_005258041.1:p.Asp1955ThrfsTer3
XM_006721922.1:c.5955del XP_006721985.1:p.Asp1986ThrfsTer3
XM_006721923.2:c.5916del XP_006721986.1:p.Asp1973ThrfsTer3
XM_006721924.1:c.5955del XP_006721987.1:p.Asp1986ThrfsTer3
XM_006721925.1:c.5892del XP_006721988.1:p.Asp1965ThrfsTer3
XM_006721926.2:c.5955del XP_006721989.1:p.Asp1986ThrfsTer3
XM_006721927.1:c.5955del XP_006721990.1:p.Asp1986ThrfsTer3
XM_011524852.1:c.5952del XP_011523154.1:p.Asp1985ThrfsTer3
XM_011524853.1:c.5916del XP_011523155.1:p.Asp1973ThrfsTer3
XM_011524854.1:c.5916del XP_011523156.1:p.Asp1973ThrfsTer3
XM_011524855.1:c.5916del XP_011523157.1:p.Asp1973ThrfsTer3
XM_011524856.1:c.5916del XP_011523158.1:p.Asp1973ThrfsTer3
XM_011524857.1:c.5955del XP_011523159.1:p.Asp1986ThrfsTer3
NM_001042492.3:c.5925del MANE Select NP_001035957.1:p.Asp1976ThrfsTer3
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