Canonical Allele Identifier: CA915949800

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343036dup , CM000679.2:g.31343036dup	GRCh38
NC_000017.10:g.29670054dup , CM000679.1:g.29670054dup	GRCh37
NC_000017.9:g.26694180dup	NCBI36
NG_009018.1:g.253060dup , LRG_214:g.253060dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7072dup	ENSP00000512431.1:p.Arg2358ProfsTer22
ENST00000684826.1:c.1654dup	ENSP00000509994.1:p.Arg552ProfsTer22
ENST00000687027.1:c.1246dup	ENSP00000508715.1:p.Arg416ProfsTer22
ENST00000687863.1:n.3735dup
ENST00000689464.1:c.29dup
ENST00000691014.1:c.7120dup	ENSP00000510595.1:p.Arg2374ProfsTer22
ENST00000693617.1:c.1654dup	ENSP00000510031.1:p.Arg552ProfsTer22
ENST00000358273.9:c.7090dup MANE Select	ENSP00000351015.4:p.Arg2364ProfsTer22
ENST00000356175.7:c.7027dup	ENSP00000348498.3:p.Arg2343ProfsTer22
ENST00000358273.8:c.7090dup	ENSP00000351015.4:p.Arg2364ProfsTer22
ENST00000456735.6:c.6025dup	ENSP00000389907.2:p.Arg2009ProfsTer22
ENST00000471572.6:c.473dup
ENST00000579081.5:c.7226dup	ENSP00000462408.1:n.7226dup
ENST00000581790.5:c.233dup
ENST00000582892.1:n.332dup
ENST00000584328.1:n.504dup
NM_000267.3:c.7027dup , LRG_214t1:c.7027dup	NP_000258.1:p.Arg2343ProfsTer22
NM_001042492.2:c.7090dup , LRG_214t2:c.7090dup	NP_001035957.1:p.Arg2364ProfsTer22
XM_005257983.1:c.7090dup	XP_005258040.1:p.Arg2364ProfsTer22
XM_005257984.1:c.7027dup	XP_005258041.1:p.Arg2343ProfsTer22
XM_006721922.1:c.7120dup	XP_006721985.1:p.Arg2374ProfsTer22
XM_006721923.2:c.7081dup	XP_006721986.1:p.Arg2361ProfsTer22
XM_006721924.1:c.7120dup	XP_006721987.1:p.Arg2374ProfsTer22
XM_006721925.1:c.7057dup	XP_006721988.1:p.Arg2353ProfsTer22
XM_006721926.2:c.7120dup	XP_006721989.1:p.Arg2374ProfsTer22
XM_006721927.1:c.7120dup	XP_006721990.1:p.Arg2374ProfsTer22
XM_011524852.1:c.7117dup	XP_011523154.1:p.Arg2373ProfsTer22
XM_011524853.1:c.7081dup	XP_011523155.1:p.Arg2361ProfsTer22
XM_011524854.1:c.7081dup	XP_011523156.1:p.Arg2361ProfsTer22
XM_011524855.1:c.7081dup	XP_011523157.1:p.Arg2361ProfsTer22
XM_011524856.1:c.7081dup	XP_011523158.1:p.Arg2361ProfsTer22
XM_011524857.1:c.7120dup	XP_011523159.1:p.Arg2374ProfsTer22
NM_001042492.3:c.7090dup MANE Select	NP_001035957.1:p.Arg2364ProfsTer22