Canonical Allele Identifier: CA16043103
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373546
ClinVar RCV Id: RCV000412972
dbSNP Id: rs1057518475
MyVariant Identifiers: chr17:g.29663406del (hg19) chr17:g.31336388del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31336388del , CM000679.2:g.31336388del GRCh38
NC_000017.10:g.29663406del , CM000679.1:g.29663406del GRCh37
NC_000017.9:g.26687532del NCBI36
NG_009018.1:g.246412del , LRG_214:g.246412del

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.2250del ENSP00000492721.2:n.2250del
ENST00000696138.1:c.6044del ENSP00000512431.1:p.Gly2015ValfsTer6
ENST00000684826.1:c.626del ENSP00000509994.1:p.Gly209ValfsTer6
ENST00000684998.1:n.487del
ENST00000687027.1:c.218del ENSP00000508715.1:p.Gly73ValfsTer6
ENST00000687863.1:n.2707del
ENST00000691014.1:c.6092del ENSP00000510595.1:p.Gly2031ValfsTer6
ENST00000693617.1:c.626del ENSP00000510031.1:p.Gly209ValfsTer6
ENST00000358273.9:c.6062del MANE Select ENSP00000351015.4:p.Gly2021ValfsTer6
ENST00000356175.7:c.5999del ENSP00000348498.3:p.Gly2000ValfsTer6
ENST00000358273.8:c.6062del ENSP00000351015.4:p.Gly2021ValfsTer6
ENST00000456735.6:c.4997del ENSP00000389907.2:p.Gly1666ValfsTer6
ENST00000479536.2:c.487del
ENST00000579081.5:c.6198del ENSP00000462408.1:n.6198del
ENST00000581113.6:n.1379del
NM_000267.3:c.5999del , LRG_214t1:c.5999del NP_000258.1:p.Gly2000ValfsTer6
NM_001042492.2:c.6062del , LRG_214t2:c.6062del NP_001035957.1:p.Gly2021ValfsTer6
XM_005257983.1:c.6062del XP_005258040.1:p.Gly2021ValfsTer6
XM_005257984.1:c.5999del XP_005258041.1:p.Gly2000ValfsTer6
XM_006721922.1:c.6092del XP_006721985.1:p.Gly2031ValfsTer6
XM_006721923.2:c.6053del XP_006721986.1:p.Gly2018ValfsTer6
XM_006721924.1:c.6092del XP_006721987.1:p.Gly2031ValfsTer6
XM_006721925.1:c.6029del XP_006721988.1:p.Gly2010ValfsTer6
XM_006721926.2:c.6092del XP_006721989.1:p.Gly2031ValfsTer6
XM_006721927.1:c.6092del XP_006721990.1:p.Gly2031ValfsTer6
XM_011524852.1:c.6089del XP_011523154.1:p.Gly2030ValfsTer6
XM_011524853.1:c.6053del XP_011523155.1:p.Gly2018ValfsTer6
XM_011524854.1:c.6053del XP_011523156.1:p.Gly2018ValfsTer6
XM_011524855.1:c.6053del XP_011523157.1:p.Gly2018ValfsTer6
XM_011524856.1:c.6053del XP_011523158.1:p.Gly2018ValfsTer6
XM_011524857.1:c.6092del XP_011523159.1:p.Gly2031ValfsTer6
NM_001042492.3:c.6062del MANE Select NP_001035957.1:p.Gly2021ValfsTer6
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