Canonical Allele Identifier: CA16615589
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404533
ClinVar RCV Id: RCV000466333
dbSNP Id: rs1060500327
MyVariant Identifiers: chr17:g.29679424del (hg19) chr17:g.31352406del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31352406del , CM000679.2:g.31352406del GRCh38
NC_000017.10:g.29679424del , CM000679.1:g.29679424del GRCh37
NC_000017.9:g.26703550del NCBI36
NG_009018.1:g.262430del , LRG_214:g.262430del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.7589del ENSP00000512431.1:p.Lys2530SerfsTer12
ENST00000684826.1:c.2171del ENSP00000509994.1:p.Lys724SerfsTer12
ENST00000687027.1:c.1763del ENSP00000508715.1:p.Lys588SerfsTer12
ENST00000687863.1:n.4252del
ENST00000689464.1:c.657del
ENST00000691014.1:c.7637del ENSP00000510595.1:p.Lys2546SerfsTer12
ENST00000693617.1:c.2171del ENSP00000510031.1:p.Lys724SerfsTer12
ENST00000358273.9:c.7607del MANE Select ENSP00000351015.4:p.Lys2536SerfsTer12
ENST00000356175.7:c.7544del ENSP00000348498.3:p.Lys2515SerfsTer12
ENST00000358273.8:c.7607del ENSP00000351015.4:p.Lys2536SerfsTer12
ENST00000456735.6:c.6542del ENSP00000389907.2:p.Lys2181SerfsTer12
ENST00000471572.6:c.990del
ENST00000579081.5:c.7743del ENSP00000462408.1:n.7743del
ENST00000581790.5:c.600+2088del
NM_000267.3:c.7544del , LRG_214t1:c.7544del NP_000258.1:p.Lys2515SerfsTer12
NM_001042492.2:c.7607del , LRG_214t2:c.7607del NP_001035957.1:p.Lys2536SerfsTer12
XM_005257983.1:c.7607del XP_005258040.1:p.Lys2536SerfsTer12
XM_005257984.1:c.7544del XP_005258041.1:p.Lys2515SerfsTer12
XM_006721922.1:c.7637del XP_006721985.1:p.Lys2546SerfsTer12
XM_006721923.2:c.7598del XP_006721986.1:p.Lys2533SerfsTer12
XM_006721924.1:c.7637del XP_006721987.1:p.Lys2546SerfsTer12
XM_006721925.1:c.7574del XP_006721988.1:p.Lys2525SerfsTer12
XM_006721926.2:c.7637del XP_006721989.1:p.Lys2546SerfsTer12
XM_006721927.1:c.7637del XP_006721990.1:p.Lys2546SerfsTer12
XM_011524852.1:c.7634del XP_011523154.1:p.Lys2545SerfsTer12
XM_011524853.1:c.7598del XP_011523155.1:p.Lys2533SerfsTer12
XM_011524854.1:c.7598del XP_011523156.1:p.Lys2533SerfsTer12
XM_011524855.1:c.7598del XP_011523157.1:p.Lys2533SerfsTer12
XM_011524856.1:c.7598del XP_011523158.1:p.Lys2533SerfsTer12
XM_011524857.1:c.7637del XP_011523159.1:p.Lys2546SerfsTer?
NM_001042492.3:c.7607del MANE Select NP_001035957.1:p.Lys2536SerfsTer12
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