Canonical Allele Identifier: CA658761110
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265301del , CM000679.2:g.31265301del GRCh38
NC_000017.10:g.29592319del , CM000679.1:g.29592319del GRCh37
NC_000017.9:g.26616445del NCBI36
NG_009018.1:g.175325del , LRG_214:g.175325del

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.599del ENSP00000492721.2:n.599del
ENST00000696138.1:c.4779del ENSP00000512431.1:p.Ala1595LeufsTer23
ENST00000696140.1:n.903del
ENST00000696141.1:c.788del
ENST00000687863.1:n.1442del
ENST00000691014.1:c.4827del ENSP00000510595.1:p.Ala1611LeufsTer23
ENST00000358273.9:c.4797del MANE Select ENSP00000351015.4:p.Ala1601LeufsTer23
ENST00000356175.7:c.4734del ENSP00000348498.3:p.Ala1580LeufsTer23
ENST00000358273.8:c.4797del ENSP00000351015.4:p.Ala1601LeufsTer23
ENST00000456735.6:c.3732del ENSP00000389907.2:p.Ala1246LeufsTer23
ENST00000493220.5:n.3270del
ENST00000579081.5:c.4836del ENSP00000462408.1:p.Ala1614LeufsTer19
NM_000267.3:c.4734del , LRG_214t1:c.4734del NP_000258.1:p.Ala1580LeufsTer23
NM_001042492.2:c.4797del , LRG_214t2:c.4797del NP_001035957.1:p.Ala1601LeufsTer23
XM_005257983.1:c.4797del XP_005258040.1:p.Ala1601LeufsTer23
XM_005257984.1:c.4734del XP_005258041.1:p.Ala1580LeufsTer23
XM_006721922.1:c.4827del XP_006721985.1:p.Ala1611LeufsTer23
XM_006721923.2:c.4788del XP_006721986.1:p.Ala1598LeufsTer23
XM_006721924.1:c.4827del XP_006721987.1:p.Ala1611LeufsTer23
XM_006721925.1:c.4764del XP_006721988.1:p.Ala1590LeufsTer23
XM_006721926.2:c.4827del XP_006721989.1:p.Ala1611LeufsTer23
XM_006721927.1:c.4827del XP_006721990.1:p.Ala1611LeufsTer23
XM_006721928.2:c.4827del XP_006721991.1:p.Ala1611LeufsTer?
XM_011524852.1:c.4824del XP_011523154.1:p.Ala1610LeufsTer23
XM_011524853.1:c.4788del XP_011523155.1:p.Ala1598LeufsTer23
XM_011524854.1:c.4788del XP_011523156.1:p.Ala1598LeufsTer23
XM_011524855.1:c.4788del XP_011523157.1:p.Ala1598LeufsTer23
XM_011524856.1:c.4788del XP_011523158.1:p.Ala1598LeufsTer23
XM_011524857.1:c.4827del XP_011523159.1:p.Ala1611LeufsTer23
NM_001042492.3:c.4797del MANE Select NP_001035957.1:p.Ala1601LeufsTer23