Canonical Allele Identifier: CA2576223449

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233195_31233204del , CM000679.2:g.31233195_31233204del	GRCh38
NC_000017.10:g.29560213_29560222del , CM000679.1:g.29560213_29560222del	GRCh37
NC_000017.9:g.26584339_26584348del	NCBI36
NG_009018.1:g.143219_143228del , LRG_214:g.143219_143228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3735_3744del	ENSP00000512431.1:p.Val1246LeufsTer6
ENST00000696139.1:c.1035_1044del	ENSP00000512432.1:p.Val346LeufsTer6
ENST00000691014.1:c.3720_3729del	ENSP00000510595.1:p.Val1241LeufsTer6
ENST00000693210.1:n.416_425del
ENST00000358273.9:c.3690_3699del MANE Select	ENSP00000351015.4:p.Val1231LeufsTer6
ENST00000356175.7:c.3690_3699del	ENSP00000348498.3:p.Val1231LeufsTer6
ENST00000358273.8:c.3690_3699del	ENSP00000351015.4:p.Val1231LeufsTer6
ENST00000456735.6:c.2688_2697del	ENSP00000389907.2:p.Val897LeufsTer6
ENST00000466819.5:c.166_175del
ENST00000479614.1:c.166_175del
ENST00000493220.5:n.2226_2235del
ENST00000495910.6:c.3465_3474del
ENST00000579081.5:c.3792_3801del	ENSP00000462408.1:p.Val1265LeufsTer6
NM_000267.3:c.3690_3699del , LRG_214t1:c.3690_3699del	NP_000258.1:p.Val1231LeufsTer6
NM_001042492.2:c.3690_3699del , LRG_214t2:c.3690_3699del	NP_001035957.1:p.Val1231LeufsTer6
XM_005257983.1:c.3690_3699del	XP_005258040.1:p.Val1231LeufsTer6
XM_005257984.1:c.3690_3699del	XP_005258041.1:p.Val1231LeufsTer6
XM_006721922.1:c.3720_3729del	XP_006721985.1:p.Val1241LeufsTer6
XM_006721923.2:c.3681_3690del	XP_006721986.1:p.Val1228LeufsTer6
XM_006721924.1:c.3720_3729del	XP_006721987.1:p.Val1241LeufsTer6
XM_006721925.1:c.3720_3729del	XP_006721988.1:p.Val1241LeufsTer6
XM_006721926.2:c.3720_3729del	XP_006721989.1:p.Val1241LeufsTer6
XM_006721927.1:c.3720_3729del	XP_006721990.1:p.Val1241LeufsTer6
XM_006721928.2:c.3720_3729del	XP_006721991.1:p.Val1241LeufsTer6
XM_011524852.1:c.3717_3726del	XP_011523154.1:p.Val1240LeufsTer6
XM_011524853.1:c.3681_3690del	XP_011523155.1:p.Val1228LeufsTer6
XM_011524854.1:c.3681_3690del	XP_011523156.1:p.Val1228LeufsTer6
XM_011524855.1:c.3681_3690del	XP_011523157.1:p.Val1228LeufsTer6
XM_011524856.1:c.3681_3690del	XP_011523158.1:p.Val1228LeufsTer6
XM_011524857.1:c.3720_3729del	XP_011523159.1:p.Val1241LeufsTer6
NM_001042492.3:c.3690_3699del MANE Select	NP_001035957.1:p.Val1231LeufsTer6