Canonical Allele Identifier: CA114191
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs267606607
MyVariant Identifiers: chr17:g.29586092_29586094del (hg19) chr17:g.31259074_31259076del (hg38)
PubMed: PMID:12707950
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31259074_31259076del , CM000679.2:g.31259074_31259076del GRCh38
NC_000017.10:g.29586092_29586094del , CM000679.1:g.29586092_29586094del GRCh37
NC_000017.9:g.26610218_26610220del NCBI36
NG_009018.1:g.169098_169100del , LRG_214:g.169098_169100del

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.163_165del ENSP00000492721.2:p.Glu55del
ENST00000696138.1:c.4357_4359del ENSP00000512431.1:p.Glu1453del
ENST00000696140.1:n.481_483del
ENST00000696141.1:c.366_368del
ENST00000687863.1:n.1020_1022del
ENST00000691014.1:c.4405_4407del ENSP00000510595.1:p.Glu1469del
ENST00000691649.1:n.347_349del
ENST00000358273.9:c.4375_4377del MANE Select ENSP00000351015.4:p.Glu1459del
ENST00000356175.7:c.4312_4314del ENSP00000348498.3:p.Glu1438del
ENST00000358273.8:c.4375_4377del ENSP00000351015.4:p.Glu1459del
ENST00000456735.6:c.3310_3312del ENSP00000389907.2:p.Glu1104del
ENST00000466819.5:c.891_893del
ENST00000479614.1:c.828_830del
ENST00000493220.5:n.2848_2850del
ENST00000579081.5:c.4414_4416del ENSP00000462408.1:p.Glu1472del
NM_000267.3:c.4312_4314del , LRG_214t1:c.4312_4314del NP_000258.1:p.Glu1438del
NM_001042492.2:c.4375_4377del , LRG_214t2:c.4375_4377del NP_001035957.1:p.Glu1459del
XM_005257983.1:c.4375_4377del XP_005258040.1:p.Glu1459del
XM_005257984.1:c.4312_4314del XP_005258041.1:p.Glu1438del
XM_006721922.1:c.4405_4407del XP_006721985.1:p.Glu1469del
XM_006721923.2:c.4366_4368del XP_006721986.1:p.Glu1456del
XM_006721924.1:c.4405_4407del XP_006721987.1:p.Glu1469del
XM_006721925.1:c.4342_4344del XP_006721988.1:p.Glu1448del
XM_006721926.2:c.4405_4407del XP_006721989.1:p.Glu1469del
XM_006721927.1:c.4405_4407del XP_006721990.1:p.Glu1469del
XM_006721928.2:c.4405_4407del XP_006721991.1:p.Glu1469del
XM_011524852.1:c.4402_4404del XP_011523154.1:p.Glu1468del
XM_011524853.1:c.4366_4368del XP_011523155.1:p.Glu1456del
XM_011524854.1:c.4366_4368del XP_011523156.1:p.Glu1456del
XM_011524855.1:c.4366_4368del XP_011523157.1:p.Glu1456del
XM_011524856.1:c.4366_4368del XP_011523158.1:p.Glu1456del
XM_011524857.1:c.4405_4407del XP_011523159.1:p.Glu1469del
NM_001042492.3:c.4375_4377del MANE Select NP_001035957.1:p.Glu1459del
Search 100 bp 5'
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