Canonical Allele Identifier: CA2580093260

Gene: NF1

Linked Data

• ClinVar Variation Id: 2018363
• ClinVar RCV Id: RCV002861960

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260497del , CM000679.2:g.31260497del	GRCh38
NC_000017.10:g.29587515del , CM000679.1:g.29587515del	GRCh37
NC_000017.9:g.26611641del	NCBI36
NG_009018.1:g.170521del , LRG_214:g.170521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.347del	ENSP00000492721.2:p.Gln116ArgfsTer11
ENST00000696138.1:c.4541del	ENSP00000512431.1:p.Gln1514ArgfsTer?
ENST00000696140.1:n.665del
ENST00000696141.1:c.550del
ENST00000687863.1:n.1204del
ENST00000691014.1:c.4589del	ENSP00000510595.1:p.Gln1530ArgfsTer?
ENST00000691649.1:n.1770del
ENST00000358273.9:c.4559del MANE Select	ENSP00000351015.4:p.Gln1520ArgfsTer?
ENST00000356175.7:c.4496del	ENSP00000348498.3:p.Gln1499ArgfsTer?
ENST00000358273.8:c.4559del	ENSP00000351015.4:p.Gln1520ArgfsTer?
ENST00000456735.6:c.3494del	ENSP00000389907.2:p.Gln1165ArgfsTer?
ENST00000466819.5:c.1075del
ENST00000479614.1:c.1012del
ENST00000493220.5:n.3032del
ENST00000579081.5:c.4598del	ENSP00000462408.1:p.Gln1533ArgfsTer?
NM_000267.3:c.4496del , LRG_214t1:c.4496del	NP_000258.1:p.Gln1499ArgfsTer?
NM_001042492.2:c.4559del , LRG_214t2:c.4559del	NP_001035957.1:p.Gln1520ArgfsTer?
XM_005257983.1:c.4559del	XP_005258040.1:p.Gln1520ArgfsTer?
XM_005257984.1:c.4496del	XP_005258041.1:p.Gln1499ArgfsTer?
XM_006721922.1:c.4589del	XP_006721985.1:p.Gln1530ArgfsTer?
XM_006721923.2:c.4550del	XP_006721986.1:p.Gln1517ArgfsTer?
XM_006721924.1:c.4589del	XP_006721987.1:p.Gln1530ArgfsTer?
XM_006721925.1:c.4526del	XP_006721988.1:p.Gln1509ArgfsTer?
XM_006721926.2:c.4589del	XP_006721989.1:p.Gln1530ArgfsTer?
XM_006721927.1:c.4589del	XP_006721990.1:p.Gln1530ArgfsTer?
XM_006721928.2:c.4589del	XP_006721991.1:p.Gln1530ArgfsTer?
XM_011524852.1:c.4586del	XP_011523154.1:p.Gln1529ArgfsTer?
XM_011524853.1:c.4550del	XP_011523155.1:p.Gln1517ArgfsTer?
XM_011524854.1:c.4550del	XP_011523156.1:p.Gln1517ArgfsTer?
XM_011524855.1:c.4550del	XP_011523157.1:p.Gln1517ArgfsTer?
XM_011524856.1:c.4550del	XP_011523158.1:p.Gln1517ArgfsTer?
XM_011524857.1:c.4589del	XP_011523159.1:p.Gln1530ArgfsTer?
NM_001042492.3:c.4559del MANE Select	NP_001035957.1:p.Gln1520ArgfsTer?