Canonical Allele Identifier: CA16615329
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404546
ClinVar RCV Id: RCV000472399
dbSNP Id: rs1060500335
MyVariant Identifiers: chr17:g.29677252del (hg19) chr17:g.31350234del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31350234del , CM000679.2:g.31350234del GRCh38
NC_000017.10:g.29677252del , CM000679.1:g.29677252del GRCh37
NC_000017.9:g.26701378del NCBI36
NG_009018.1:g.260258del , LRG_214:g.260258del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.7355del ENSP00000512431.1:p.Arg2452LysfsTer?
ENST00000684826.1:c.1937del ENSP00000509994.1:p.Arg646LysfsTer?
ENST00000687027.1:c.1529del ENSP00000508715.1:p.Arg510LysfsTer?
ENST00000687863.1:n.4018del
ENST00000689464.1:c.423del
ENST00000691014.1:c.7403del ENSP00000510595.1:p.Arg2468LysfsTer?
ENST00000693617.1:c.1937del ENSP00000510031.1:p.Arg646LysfsTer?
ENST00000358273.9:c.7373del MANE Select ENSP00000351015.4:p.Arg2458LysfsTer?
ENST00000356175.7:c.7310del ENSP00000348498.3:p.Arg2437LysfsTer?
ENST00000358273.8:c.7373del ENSP00000351015.4:p.Arg2458LysfsTer?
ENST00000456735.6:c.6308del ENSP00000389907.2:p.Arg2103LysfsTer?
ENST00000471572.6:c.756del
ENST00000579081.5:c.7509del ENSP00000462408.1:n.7509del
ENST00000581790.5:c.516del
NM_000267.3:c.7310del , LRG_214t1:c.7310del NP_000258.1:p.Arg2437LysfsTer?
NM_001042492.2:c.7373del , LRG_214t2:c.7373del NP_001035957.1:p.Arg2458LysfsTer?
XM_005257983.1:c.7373del XP_005258040.1:p.Arg2458LysfsTer?
XM_005257984.1:c.7310del XP_005258041.1:p.Arg2437LysfsTer?
XM_006721922.1:c.7403del XP_006721985.1:p.Arg2468LysfsTer?
XM_006721923.2:c.7364del XP_006721986.1:p.Arg2455LysfsTer?
XM_006721924.1:c.7403del XP_006721987.1:p.Arg2468LysfsTer?
XM_006721925.1:c.7340del XP_006721988.1:p.Arg2447LysfsTer?
XM_006721926.2:c.7403del XP_006721989.1:p.Arg2468LysfsTer?
XM_006721927.1:c.7403del XP_006721990.1:p.Arg2468LysfsTer?
XM_011524852.1:c.7400del XP_011523154.1:p.Arg2467LysfsTer?
XM_011524853.1:c.7364del XP_011523155.1:p.Arg2455LysfsTer?
XM_011524854.1:c.7364del XP_011523156.1:p.Arg2455LysfsTer?
XM_011524855.1:c.7364del XP_011523157.1:p.Arg2455LysfsTer?
XM_011524856.1:c.7364del XP_011523158.1:p.Arg2455LysfsTer?
XM_011524857.1:c.7403del XP_011523159.1:p.Arg2468LysfsTer?
NM_001042492.3:c.7373del MANE Select NP_001035957.1:p.Arg2458LysfsTer?
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