Canonical Allele Identifier: CA2255607712

Gene: NF1

Linked Data

• dbSNP Id: rs1791979843

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31349150dup , CM000679.2:g.31349150dup	GRCh38
NC_000017.10:g.29676168dup , CM000679.1:g.29676168dup	GRCh37
NC_000017.9:g.26700294dup	NCBI36
NG_009018.1:g.259174dup , LRG_214:g.259174dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7202dup	ENSP00000512431.1:p.Arg2402LysfsTer14
ENST00000684826.1:c.1784dup	ENSP00000509994.1:p.Arg596LysfsTer14
ENST00000687027.1:c.1376dup	ENSP00000508715.1:p.Arg460LysfsTer14
ENST00000687863.1:n.3865dup
ENST00000689464.1:c.270dup
ENST00000691014.1:c.7250dup	ENSP00000510595.1:p.Arg2418LysfsTer14
ENST00000693617.1:c.1784dup	ENSP00000510031.1:p.Arg596LysfsTer14
ENST00000358273.9:c.7220dup MANE Select	ENSP00000351015.4:p.Arg2408LysfsTer14
ENST00000356175.7:c.7157dup	ENSP00000348498.3:p.Arg2387LysfsTer14
ENST00000358273.8:c.7220dup	ENSP00000351015.4:p.Arg2408LysfsTer14
ENST00000456735.6:c.6155dup	ENSP00000389907.2:p.Arg2053LysfsTer14
ENST00000471572.6:c.603dup
ENST00000579081.5:c.7356dup	ENSP00000462408.1:n.7356dup
ENST00000581790.5:c.363dup
NM_000267.3:c.7157dup , LRG_214t1:c.7157dup	NP_000258.1:p.Arg2387LysfsTer14
NM_001042492.2:c.7220dup , LRG_214t2:c.7220dup	NP_001035957.1:p.Arg2408LysfsTer14
XM_005257983.1:c.7220dup	XP_005258040.1:p.Arg2408LysfsTer14
XM_005257984.1:c.7157dup	XP_005258041.1:p.Arg2387LysfsTer14
XM_006721922.1:c.7250dup	XP_006721985.1:p.Arg2418LysfsTer14
XM_006721923.2:c.7211dup	XP_006721986.1:p.Arg2405LysfsTer14
XM_006721924.1:c.7250dup	XP_006721987.1:p.Arg2418LysfsTer14
XM_006721925.1:c.7187dup	XP_006721988.1:p.Arg2397LysfsTer14
XM_006721926.2:c.7250dup	XP_006721989.1:p.Arg2418LysfsTer14
XM_006721927.1:c.7250dup	XP_006721990.1:p.Arg2418LysfsTer14
XM_011524852.1:c.7247dup	XP_011523154.1:p.Arg2417LysfsTer14
XM_011524853.1:c.7211dup	XP_011523155.1:p.Arg2405LysfsTer14
XM_011524854.1:c.7211dup	XP_011523156.1:p.Arg2405LysfsTer14
XM_011524855.1:c.7211dup	XP_011523157.1:p.Arg2405LysfsTer14
XM_011524856.1:c.7211dup	XP_011523158.1:p.Arg2405LysfsTer14
XM_011524857.1:c.7250dup	XP_011523159.1:p.Arg2418LysfsTer14
NM_001042492.3:c.7220dup MANE Select	NP_001035957.1:p.Arg2408LysfsTer14