Canonical Allele Identifier: CA2573153889
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31340535del , CM000679.2:g.31340535del GRCh38
NC_000017.10:g.29667553del , CM000679.1:g.29667553del GRCh37
NC_000017.9:g.26691679del NCBI36
NG_009018.1:g.250559del , LRG_214:g.250559del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6934del ENSP00000512431.1:p.Val2312Ter
ENST00000684826.1:c.1516del ENSP00000509994.1:p.Val506Ter
ENST00000684998.1:n.4473del
ENST00000687027.1:c.1108del ENSP00000508715.1:p.Val370Ter
ENST00000687863.1:n.3597del
ENST00000691014.1:c.6982del ENSP00000510595.1:p.Val2328Ter
ENST00000693617.1:c.1516del ENSP00000510031.1:p.Val506Ter
ENST00000358273.9:c.6952del MANE Select ENSP00000351015.4:p.Val2318Ter
ENST00000356175.7:c.6889del ENSP00000348498.3:p.Val2297Ter
ENST00000358273.8:c.6952del ENSP00000351015.4:p.Val2318Ter
ENST00000456735.6:c.5887del ENSP00000389907.2:p.Val1963Ter
ENST00000471572.6:c.335del
ENST00000579081.5:c.7088del ENSP00000462408.1:n.7088del
ENST00000581790.5:c.95del
ENST00000582892.1:n.256del
ENST00000584328.1:n.366del
NM_000267.3:c.6889del , LRG_214t1:c.6889del NP_000258.1:p.Val2297Ter
NM_001042492.2:c.6952del , LRG_214t2:c.6952del NP_001035957.1:p.Val2318Ter
XM_005257983.1:c.6952del XP_005258040.1:p.Val2318Ter
XM_005257984.1:c.6889del XP_005258041.1:p.Val2297Ter
XM_006721922.1:c.6982del XP_006721985.1:p.Val2328Ter
XM_006721923.2:c.6943del XP_006721986.1:p.Val2315Ter
XM_006721924.1:c.6982del XP_006721987.1:p.Val2328Ter
XM_006721925.1:c.6919del XP_006721988.1:p.Val2307Ter
XM_006721926.2:c.6982del XP_006721989.1:p.Val2328Ter
XM_006721927.1:c.6982del XP_006721990.1:p.Val2328Ter
XM_011524852.1:c.6979del XP_011523154.1:p.Val2327Ter
XM_011524853.1:c.6943del XP_011523155.1:p.Val2315Ter
XM_011524854.1:c.6943del XP_011523156.1:p.Val2315Ter
XM_011524855.1:c.6943del XP_011523157.1:p.Val2315Ter
XM_011524856.1:c.6943del XP_011523158.1:p.Val2315Ter
XM_011524857.1:c.6982del XP_011523159.1:p.Val2328Ter
NM_001042492.3:c.6952del MANE Select NP_001035957.1:p.Val2318Ter