Canonical Allele Identifier: CA2695225760

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31248996dup , CM000679.2:g.31248996dup	GRCh38
NC_000017.10:g.29576014dup , CM000679.1:g.29576014dup	GRCh37
NC_000017.9:g.26600140dup	NCBI36
NG_009018.1:g.159020dup , LRG_214:g.159020dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4032dup	ENSP00000512431.1:p.Glu1345ArgfsTer4
ENST00000696139.1:c.1450dup	ENSP00000512432.1:n.1450dup
ENST00000696140.1:n.93dup
ENST00000687863.1:n.695dup
ENST00000691014.1:c.4017dup	ENSP00000510595.1:p.Glu1340ArgfsTer4
ENST00000358273.9:c.3987dup MANE Select	ENSP00000351015.4:p.Glu1330ArgfsTer4
ENST00000356175.7:c.3987dup	ENSP00000348498.3:p.Glu1330ArgfsTer4
ENST00000358273.8:c.3987dup	ENSP00000351015.4:p.Glu1330ArgfsTer4
ENST00000456735.6:c.2985dup	ENSP00000389907.2:p.Glu996ArgfsTer4
ENST00000466819.5:c.463dup
ENST00000479614.1:c.463dup
ENST00000493220.5:n.2523dup
ENST00000495910.6:c.3762dup
ENST00000579081.5:c.4089dup	ENSP00000462408.1:p.Glu1364ArgfsTer4
NM_000267.3:c.3987dup , LRG_214t1:c.3987dup	NP_000258.1:p.Glu1330ArgfsTer4
NM_001042492.2:c.3987dup , LRG_214t2:c.3987dup	NP_001035957.1:p.Glu1330ArgfsTer4
XM_005257983.1:c.3987dup	XP_005258040.1:p.Glu1330ArgfsTer4
XM_005257984.1:c.3987dup	XP_005258041.1:p.Glu1330ArgfsTer4
XM_006721922.1:c.4017dup	XP_006721985.1:p.Glu1340ArgfsTer4
XM_006721923.2:c.3978dup	XP_006721986.1:p.Glu1327ArgfsTer4
XM_006721924.1:c.4017dup	XP_006721987.1:p.Glu1340ArgfsTer4
XM_006721925.1:c.4017dup	XP_006721988.1:p.Glu1340ArgfsTer4
XM_006721926.2:c.4017dup	XP_006721989.1:p.Glu1340ArgfsTer4
XM_006721927.1:c.4017dup	XP_006721990.1:p.Glu1340ArgfsTer4
XM_006721928.2:c.4017dup	XP_006721991.1:p.Glu1340ArgfsTer4
XM_011524852.1:c.4014dup	XP_011523154.1:p.Glu1339ArgfsTer4
XM_011524853.1:c.3978dup	XP_011523155.1:p.Glu1327ArgfsTer4
XM_011524854.1:c.3978dup	XP_011523156.1:p.Glu1327ArgfsTer4
XM_011524855.1:c.3978dup	XP_011523157.1:p.Glu1327ArgfsTer4
XM_011524856.1:c.3978dup	XP_011523158.1:p.Glu1327ArgfsTer4
XM_011524857.1:c.4017dup	XP_011523159.1:p.Glu1340ArgfsTer4
NM_001042492.3:c.3987dup MANE Select	NP_001035957.1:p.Glu1330ArgfsTer4