Canonical Allele Identifier: CA2759543836

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233163_31233164del , CM000679.2:g.31233163_31233164del	GRCh38
NC_000017.10:g.29560181_29560182del , CM000679.1:g.29560181_29560182del	GRCh37
NC_000017.9:g.26584307_26584308del	NCBI36
NG_009018.1:g.143187_143188del , LRG_214:g.143187_143188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3703_3704del	ENSP00000512431.1:p.Glu1235ThrfsTer18
ENST00000696139.1:c.1003_1004del	ENSP00000512432.1:p.Glu335ThrfsTer18
ENST00000691014.1:c.3688_3689del	ENSP00000510595.1:p.Glu1230ThrfsTer18
ENST00000693210.1:n.384_385del
ENST00000358273.9:c.3658_3659del MANE Select	ENSP00000351015.4:p.Glu1220ThrfsTer18
ENST00000356175.7:c.3658_3659del	ENSP00000348498.3:p.Glu1220ThrfsTer18
ENST00000358273.8:c.3658_3659del	ENSP00000351015.4:p.Glu1220ThrfsTer18
ENST00000456735.6:c.2656_2657del	ENSP00000389907.2:p.Glu886ThrfsTer18
ENST00000466819.5:c.134_135del
ENST00000479614.1:c.134_135del
ENST00000493220.5:n.2194_2195del
ENST00000495910.6:c.3433_3434del
ENST00000579081.5:c.3760_3761del	ENSP00000462408.1:p.Glu1254ThrfsTer18
NM_000267.3:c.3658_3659del , LRG_214t1:c.3658_3659del	NP_000258.1:p.Glu1220ThrfsTer18
NM_001042492.2:c.3658_3659del , LRG_214t2:c.3658_3659del	NP_001035957.1:p.Glu1220ThrfsTer18
XM_005257983.1:c.3658_3659del	XP_005258040.1:p.Glu1220ThrfsTer18
XM_005257984.1:c.3658_3659del	XP_005258041.1:p.Glu1220ThrfsTer18
XM_006721922.1:c.3688_3689del	XP_006721985.1:p.Glu1230ThrfsTer18
XM_006721923.2:c.3649_3650del	XP_006721986.1:p.Glu1217ThrfsTer18
XM_006721924.1:c.3688_3689del	XP_006721987.1:p.Glu1230ThrfsTer18
XM_006721925.1:c.3688_3689del	XP_006721988.1:p.Glu1230ThrfsTer18
XM_006721926.2:c.3688_3689del	XP_006721989.1:p.Glu1230ThrfsTer18
XM_006721927.1:c.3688_3689del	XP_006721990.1:p.Glu1230ThrfsTer18
XM_006721928.2:c.3688_3689del	XP_006721991.1:p.Glu1230ThrfsTer18
XM_011524852.1:c.3685_3686del	XP_011523154.1:p.Glu1229ThrfsTer18
XM_011524853.1:c.3649_3650del	XP_011523155.1:p.Glu1217ThrfsTer18
XM_011524854.1:c.3649_3650del	XP_011523156.1:p.Glu1217ThrfsTer18
XM_011524855.1:c.3649_3650del	XP_011523157.1:p.Glu1217ThrfsTer18
XM_011524856.1:c.3649_3650del	XP_011523158.1:p.Glu1217ThrfsTer18
XM_011524857.1:c.3688_3689del	XP_011523159.1:p.Glu1230ThrfsTer18
NM_001042492.3:c.3658_3659del MANE Select	NP_001035957.1:p.Glu1220ThrfsTer18