Canonical Allele Identifier: CA2573153669

Gene: NF1

Linked Data

• ClinVar Variation Id: 1425056
• ClinVar RCV Id: RCV001924237 ; RCV002334903
• dbSNP Id: rs2151470069

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265255del , CM000679.2:g.31265255del	GRCh38
NC_000017.10:g.29592273del , CM000679.1:g.29592273del	GRCh37
NC_000017.9:g.26616399del	NCBI36
NG_009018.1:g.175279del , LRG_214:g.175279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.553del	ENSP00000492721.2:n.553del
ENST00000696138.1:c.4733del	ENSP00000512431.1:p.Phe1578SerfsTer4
ENST00000696140.1:n.857del
ENST00000696141.1:c.742del
ENST00000687863.1:n.1396del
ENST00000691014.1:c.4781del	ENSP00000510595.1:p.Phe1594SerfsTer4
ENST00000358273.9:c.4751del MANE Select	ENSP00000351015.4:p.Phe1584SerfsTer4
ENST00000356175.7:c.4688del	ENSP00000348498.3:p.Phe1563SerfsTer4
ENST00000358273.8:c.4751del	ENSP00000351015.4:p.Phe1584SerfsTer4
ENST00000456735.6:c.3686del	ENSP00000389907.2:p.Phe1229SerfsTer4
ENST00000493220.5:n.3224del
ENST00000579081.5:c.4790del	ENSP00000462408.1:p.Phe1597SerfsTer4
NM_000267.3:c.4688del , LRG_214t1:c.4688del	NP_000258.1:p.Phe1563SerfsTer4
NM_001042492.2:c.4751del , LRG_214t2:c.4751del	NP_001035957.1:p.Phe1584SerfsTer4
XM_005257983.1:c.4751del	XP_005258040.1:p.Phe1584SerfsTer4
XM_005257984.1:c.4688del	XP_005258041.1:p.Phe1563SerfsTer4
XM_006721922.1:c.4781del	XP_006721985.1:p.Phe1594SerfsTer4
XM_006721923.2:c.4742del	XP_006721986.1:p.Phe1581SerfsTer4
XM_006721924.1:c.4781del	XP_006721987.1:p.Phe1594SerfsTer4
XM_006721925.1:c.4718del	XP_006721988.1:p.Phe1573SerfsTer4
XM_006721926.2:c.4781del	XP_006721989.1:p.Phe1594SerfsTer4
XM_006721927.1:c.4781del	XP_006721990.1:p.Phe1594SerfsTer4
XM_006721928.2:c.4781del	XP_006721991.1:p.Phe1594SerfsTer4
XM_011524852.1:c.4778del	XP_011523154.1:p.Phe1593SerfsTer4
XM_011524853.1:c.4742del	XP_011523155.1:p.Phe1581SerfsTer4
XM_011524854.1:c.4742del	XP_011523156.1:p.Phe1581SerfsTer4
XM_011524855.1:c.4742del	XP_011523157.1:p.Phe1581SerfsTer4
XM_011524856.1:c.4742del	XP_011523158.1:p.Phe1581SerfsTer4
XM_011524857.1:c.4781del	XP_011523159.1:p.Phe1594SerfsTer4
NM_001042492.3:c.4751del MANE Select	NP_001035957.1:p.Phe1584SerfsTer4