Canonical Allele Identifier: CA658761073

Gene: NF1

Linked Data

• PubMed: PMID:23913538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233210del , CM000679.2:g.31233210del	GRCh38
NC_000017.10:g.29560228del , CM000679.1:g.29560228del	GRCh37
NC_000017.9:g.26584354del	NCBI36
NG_009018.1:g.143234del , LRG_214:g.143234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3750del	ENSP00000512431.1:p.Gln1250HisfsTer5
ENST00000696139.1:c.1050del	ENSP00000512432.1:p.Gln350HisfsTer5
ENST00000691014.1:c.3735del	ENSP00000510595.1:p.Gln1245HisfsTer5
ENST00000693210.1:n.431del
ENST00000358273.9:c.3705del MANE Select	ENSP00000351015.4:p.Gln1235HisfsTer5
ENST00000356175.7:c.3705del	ENSP00000348498.3:p.Gln1235HisfsTer5
ENST00000358273.8:c.3705del	ENSP00000351015.4:p.Gln1235HisfsTer5
ENST00000456735.6:c.2703del	ENSP00000389907.2:p.Gln901HisfsTer5
ENST00000466819.5:c.181del
ENST00000479614.1:c.181del
ENST00000493220.5:n.2241del
ENST00000495910.6:c.3480del
ENST00000579081.5:c.3807del	ENSP00000462408.1:p.Gln1269HisfsTer5
NM_000267.3:c.3705del , LRG_214t1:c.3705del	NP_000258.1:p.Gln1235HisfsTer5
NM_001042492.2:c.3705del , LRG_214t2:c.3705del	NP_001035957.1:p.Gln1235HisfsTer5
XM_005257983.1:c.3705del	XP_005258040.1:p.Gln1235HisfsTer5
XM_005257984.1:c.3705del	XP_005258041.1:p.Gln1235HisfsTer5
XM_006721922.1:c.3735del	XP_006721985.1:p.Gln1245HisfsTer5
XM_006721923.2:c.3696del	XP_006721986.1:p.Gln1232HisfsTer5
XM_006721924.1:c.3735del	XP_006721987.1:p.Gln1245HisfsTer5
XM_006721925.1:c.3735del	XP_006721988.1:p.Gln1245HisfsTer5
XM_006721926.2:c.3735del	XP_006721989.1:p.Gln1245HisfsTer5
XM_006721927.1:c.3735del	XP_006721990.1:p.Gln1245HisfsTer5
XM_006721928.2:c.3735del	XP_006721991.1:p.Gln1245HisfsTer5
XM_011524852.1:c.3732del	XP_011523154.1:p.Gln1244HisfsTer5
XM_011524853.1:c.3696del	XP_011523155.1:p.Gln1232HisfsTer5
XM_011524854.1:c.3696del	XP_011523156.1:p.Gln1232HisfsTer5
XM_011524855.1:c.3696del	XP_011523157.1:p.Gln1232HisfsTer5
XM_011524856.1:c.3696del	XP_011523158.1:p.Gln1232HisfsTer5
XM_011524857.1:c.3735del	XP_011523159.1:p.Gln1245HisfsTer5
NM_001042492.3:c.3705del MANE Select	NP_001035957.1:p.Gln1235HisfsTer5