Canonical Allele Identifier: CA645293900
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426130
ClinVar RCV Id: RCV000489954 RCV002318594
dbSNP Id: rs1085307461
MyVariant Identifiers: chr17:g.29546067del (hg19) chr17:g.31219049del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31219049del , CM000679.2:g.31219049del GRCh38
NC_000017.10:g.29546067del , CM000679.1:g.29546067del GRCh37
NC_000017.9:g.26570193del NCBI36
NG_009018.1:g.129073del , LRG_214:g.129073del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.1617del ENSP00000512431.1:p.Glu539AspfsTer2
ENST00000686189.1:c.1017del ENSP00000509682.1:p.Glu339AspfsTer2
ENST00000691014.1:c.1602del ENSP00000510595.1:p.Glu534AspfsTer2
ENST00000358273.9:c.1572del MANE Select ENSP00000351015.4:p.Glu524AspfsTer2
ENST00000356175.7:c.1572del ENSP00000348498.3:p.Glu524AspfsTer2
ENST00000358273.8:c.1572del ENSP00000351015.4:p.Glu524AspfsTer2
ENST00000431387.8:c.1572del ENSP00000412921.4:p.Glu524AspfsTer2
ENST00000456735.6:c.570del ENSP00000389907.2:p.Glu190AspfsTer2
ENST00000487476.5:n.1955del
ENST00000495910.6:c.1347del
ENST00000579081.5:c.1674del ENSP00000462408.1:p.Glu558AspfsTer2
NM_000267.3:c.1572del , LRG_214t1:c.1572del NP_000258.1:p.Glu524AspfsTer2
NM_001042492.2:c.1572del , LRG_214t2:c.1572del NP_001035957.1:p.Glu524AspfsTer2
NM_001128147.2:c.1572del NP_001121619.1:p.Glu524AspfsTer2
XM_005257983.1:c.1572del XP_005258040.1:p.Glu524AspfsTer2
XM_005257984.1:c.1572del XP_005258041.1:p.Glu524AspfsTer2
XM_006721922.1:c.1602del XP_006721985.1:p.Glu534AspfsTer2
XM_006721923.2:c.1563del XP_006721986.1:p.Glu521AspfsTer2
XM_006721924.1:c.1602del XP_006721987.1:p.Glu534AspfsTer2
XM_006721925.1:c.1602del XP_006721988.1:p.Glu534AspfsTer2
XM_006721926.2:c.1602del XP_006721989.1:p.Glu534AspfsTer2
XM_006721927.1:c.1602del XP_006721990.1:p.Glu534AspfsTer2
XM_006721928.2:c.1602del XP_006721991.1:p.Glu534AspfsTer2
XM_011524852.1:c.1602del XP_011523154.1:p.Glu534AspfsTer2
XM_011524853.1:c.1563del XP_011523155.1:p.Glu521AspfsTer2
XM_011524854.1:c.1563del XP_011523156.1:p.Glu521AspfsTer2
XM_011524855.1:c.1563del XP_011523157.1:p.Glu521AspfsTer2
XM_011524856.1:c.1563del XP_011523158.1:p.Glu521AspfsTer2
XM_011524857.1:c.1602del XP_011523159.1:p.Glu534AspfsTer2
NM_001042492.3:c.1572del MANE Select NP_001035957.1:p.Glu524AspfsTer2
NM_001128147.3:c.1572del NP_001121619.1:p.Glu524AspfsTer2
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