Canonical Allele Identifier: CA658761069

Gene: NF1

Linked Data

• PubMed: PMID:23913538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233154dup , CM000679.2:g.31233154dup	GRCh38
NC_000017.10:g.29560172dup , CM000679.1:g.29560172dup	GRCh37
NC_000017.9:g.26584298dup	NCBI36
NG_009018.1:g.143178dup , LRG_214:g.143178dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3694dup	ENSP00000512431.1:p.Asp1232GlyfsTer22
ENST00000696139.1:c.994dup	ENSP00000512432.1:p.Asp332GlyfsTer22
ENST00000691014.1:c.3679dup	ENSP00000510595.1:p.Asp1227GlyfsTer22
ENST00000693210.1:n.375dup
ENST00000358273.9:c.3649dup MANE Select	ENSP00000351015.4:p.Asp1217GlyfsTer22
ENST00000356175.7:c.3649dup	ENSP00000348498.3:p.Asp1217GlyfsTer22
ENST00000358273.8:c.3649dup	ENSP00000351015.4:p.Asp1217GlyfsTer22
ENST00000456735.6:c.2647dup	ENSP00000389907.2:p.Asp883GlyfsTer22
ENST00000466819.5:c.125dup
ENST00000479614.1:c.125dup
ENST00000493220.5:n.2185dup
ENST00000495910.6:c.3424dup
ENST00000579081.5:c.3751dup	ENSP00000462408.1:p.Asp1251GlyfsTer22
NM_000267.3:c.3649dup , LRG_214t1:c.3649dup	NP_000258.1:p.Asp1217GlyfsTer22
NM_001042492.2:c.3649dup , LRG_214t2:c.3649dup	NP_001035957.1:p.Asp1217GlyfsTer22
XM_005257983.1:c.3649dup	XP_005258040.1:p.Asp1217GlyfsTer22
XM_005257984.1:c.3649dup	XP_005258041.1:p.Asp1217GlyfsTer22
XM_006721922.1:c.3679dup	XP_006721985.1:p.Asp1227GlyfsTer22
XM_006721923.2:c.3640dup	XP_006721986.1:p.Asp1214GlyfsTer22
XM_006721924.1:c.3679dup	XP_006721987.1:p.Asp1227GlyfsTer22
XM_006721925.1:c.3679dup	XP_006721988.1:p.Asp1227GlyfsTer22
XM_006721926.2:c.3679dup	XP_006721989.1:p.Asp1227GlyfsTer22
XM_006721927.1:c.3679dup	XP_006721990.1:p.Asp1227GlyfsTer22
XM_006721928.2:c.3679dup	XP_006721991.1:p.Asp1227GlyfsTer22
XM_011524852.1:c.3676dup	XP_011523154.1:p.Asp1226GlyfsTer22
XM_011524853.1:c.3640dup	XP_011523155.1:p.Asp1214GlyfsTer22
XM_011524854.1:c.3640dup	XP_011523156.1:p.Asp1214GlyfsTer22
XM_011524855.1:c.3640dup	XP_011523157.1:p.Asp1214GlyfsTer22
XM_011524856.1:c.3640dup	XP_011523158.1:p.Asp1214GlyfsTer22
XM_011524857.1:c.3679dup	XP_011523159.1:p.Asp1227GlyfsTer22
NM_001042492.3:c.3649dup MANE Select	NP_001035957.1:p.Asp1217GlyfsTer22