Canonical Allele Identifier: CA2255573420
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 996391
dbSNP Id: rs2067621019

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31258378del , CM000679.2:g.31258378del GRCh38
NC_000017.10:g.29585396del , CM000679.1:g.29585396del GRCh37
NC_000017.9:g.26609522del NCBI36
NG_009018.1:g.168402del , LRG_214:g.168402del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.4190del ENSP00000512431.1:p.Gly1397ValfsTer3
ENST00000696140.1:n.314del
ENST00000696141.1:c.199del
ENST00000687863.1:n.853del
ENST00000691014.1:c.4238del ENSP00000510595.1:p.Gly1413ValfsTer3
ENST00000691649.1:n.180del
ENST00000358273.9:c.4208del MANE Select ENSP00000351015.4:p.Gly1403ValfsTer3
ENST00000356175.7:c.4145del ENSP00000348498.3:p.Gly1382ValfsTer3
ENST00000358273.8:c.4208del ENSP00000351015.4:p.Gly1403ValfsTer3
ENST00000456735.6:c.3143del ENSP00000389907.2:p.Gly1048ValfsTer3
ENST00000466819.5:c.724del
ENST00000479614.1:c.661del
ENST00000493220.5:n.2681del
ENST00000579081.5:c.4247del ENSP00000462408.1:p.Gly1416ValfsTer3
NM_000267.3:c.4145del , LRG_214t1:c.4145del NP_000258.1:p.Gly1382ValfsTer3
NM_001042492.2:c.4208del , LRG_214t2:c.4208del NP_001035957.1:p.Gly1403ValfsTer3
XM_005257983.1:c.4208del XP_005258040.1:p.Gly1403ValfsTer3
XM_005257984.1:c.4145del XP_005258041.1:p.Gly1382ValfsTer3
XM_006721922.1:c.4238del XP_006721985.1:p.Gly1413ValfsTer3
XM_006721923.2:c.4199del XP_006721986.1:p.Gly1400ValfsTer3
XM_006721924.1:c.4238del XP_006721987.1:p.Gly1413ValfsTer3
XM_006721925.1:c.4175del XP_006721988.1:p.Gly1392ValfsTer3
XM_006721926.2:c.4238del XP_006721989.1:p.Gly1413ValfsTer3
XM_006721927.1:c.4238del XP_006721990.1:p.Gly1413ValfsTer3
XM_006721928.2:c.4238del XP_006721991.1:p.Gly1413ValfsTer3
XM_011524852.1:c.4235del XP_011523154.1:p.Gly1412ValfsTer3
XM_011524853.1:c.4199del XP_011523155.1:p.Gly1400ValfsTer3
XM_011524854.1:c.4199del XP_011523156.1:p.Gly1400ValfsTer3
XM_011524855.1:c.4199del XP_011523157.1:p.Gly1400ValfsTer3
XM_011524856.1:c.4199del XP_011523158.1:p.Gly1400ValfsTer3
XM_011524857.1:c.4238del XP_011523159.1:p.Gly1413ValfsTer3
NM_001042492.3:c.4208del MANE Select NP_001035957.1:p.Gly1403ValfsTer3