Canonical Allele Identifier: CA2695225408

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261810del , CM000679.2:g.31261810del	GRCh38
NC_000017.10:g.29588828del , CM000679.1:g.29588828del	GRCh37
NC_000017.9:g.26612954del	NCBI36
NG_009018.1:g.171834del , LRG_214:g.171834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.479del	ENSP00000492721.2:p.Gly160ValfsTer4
ENST00000696138.1:c.4659del	ENSP00000512431.1:p.Trp1553CysfsTer15
ENST00000696140.1:n.783del
ENST00000696141.1:c.668del
ENST00000687863.1:n.1322del
ENST00000691014.1:c.4707del	ENSP00000510595.1:p.Trp1569CysfsTer15
ENST00000358273.9:c.4677del MANE Select	ENSP00000351015.4:p.Trp1559CysfsTer15
ENST00000356175.7:c.4614del	ENSP00000348498.3:p.Trp1538CysfsTer15
ENST00000358273.8:c.4677del	ENSP00000351015.4:p.Trp1559CysfsTer15
ENST00000456735.6:c.3612del	ENSP00000389907.2:p.Trp1204CysfsTer15
ENST00000493220.5:n.3150del
ENST00000579081.5:c.4716del	ENSP00000462408.1:p.Trp1572CysfsTer15
NM_000267.3:c.4614del , LRG_214t1:c.4614del	NP_000258.1:p.Trp1538CysfsTer15
NM_001042492.2:c.4677del , LRG_214t2:c.4677del	NP_001035957.1:p.Trp1559CysfsTer15
XM_005257983.1:c.4677del	XP_005258040.1:p.Trp1559CysfsTer15
XM_005257984.1:c.4614del	XP_005258041.1:p.Trp1538CysfsTer15
XM_006721922.1:c.4707del	XP_006721985.1:p.Trp1569CysfsTer15
XM_006721923.2:c.4668del	XP_006721986.1:p.Trp1556CysfsTer15
XM_006721924.1:c.4707del	XP_006721987.1:p.Trp1569CysfsTer15
XM_006721925.1:c.4644del	XP_006721988.1:p.Trp1548CysfsTer15
XM_006721926.2:c.4707del	XP_006721989.1:p.Trp1569CysfsTer15
XM_006721927.1:c.4707del	XP_006721990.1:p.Trp1569CysfsTer15
XM_006721928.2:c.4707del	XP_006721991.1:p.Trp1569CysfsTer15
XM_011524852.1:c.4704del	XP_011523154.1:p.Trp1568CysfsTer15
XM_011524853.1:c.4668del	XP_011523155.1:p.Trp1556CysfsTer15
XM_011524854.1:c.4668del	XP_011523156.1:p.Trp1556CysfsTer15
XM_011524855.1:c.4668del	XP_011523157.1:p.Trp1556CysfsTer15
XM_011524856.1:c.4668del	XP_011523158.1:p.Trp1556CysfsTer15
XM_011524857.1:c.4707del	XP_011523159.1:p.Trp1569CysfsTer15
NM_001042492.3:c.4677del MANE Select	NP_001035957.1:p.Trp1559CysfsTer15