Canonical Allele Identifier: CA2499224145

Gene: NF1

Linked Data

• ClinVar Variation Id: 1184516
• ClinVar RCV Id: RCV001542606
• dbSNP Id: rs2151466235

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261730del , CM000679.2:g.31261730del	GRCh38
NC_000017.10:g.29588748del , CM000679.1:g.29588748del	GRCh37
NC_000017.9:g.26612874del	NCBI36
NG_009018.1:g.171754del , LRG_214:g.171754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.399del	ENSP00000492721.2:p.Asp134ThrfsTer4
ENST00000696138.1:c.4579del	ENSP00000512431.1:p.Arg1527AspfsTer?
ENST00000696140.1:n.703del
ENST00000696141.1:c.588del
ENST00000687863.1:n.1242del
ENST00000691014.1:c.4627del	ENSP00000510595.1:p.Arg1543AspfsTer?
ENST00000358273.9:c.4597del MANE Select	ENSP00000351015.4:p.Arg1533AspfsTer?
ENST00000356175.7:c.4534del	ENSP00000348498.3:p.Arg1512AspfsTer?
ENST00000358273.8:c.4597del	ENSP00000351015.4:p.Arg1533AspfsTer?
ENST00000456735.6:c.3532del	ENSP00000389907.2:p.Arg1178AspfsTer?
ENST00000466819.5:c.1113del
ENST00000479614.1:c.1050del
ENST00000493220.5:n.3070del
ENST00000579081.5:c.4636del	ENSP00000462408.1:p.Arg1546AspfsTer?
NM_000267.3:c.4534del , LRG_214t1:c.4534del	NP_000258.1:p.Arg1512AspfsTer?
NM_001042492.2:c.4597del , LRG_214t2:c.4597del	NP_001035957.1:p.Arg1533AspfsTer?
XM_005257983.1:c.4597del	XP_005258040.1:p.Arg1533AspfsTer?
XM_005257984.1:c.4534del	XP_005258041.1:p.Arg1512AspfsTer?
XM_006721922.1:c.4627del	XP_006721985.1:p.Arg1543AspfsTer?
XM_006721923.2:c.4588del	XP_006721986.1:p.Arg1530AspfsTer?
XM_006721924.1:c.4627del	XP_006721987.1:p.Arg1543AspfsTer?
XM_006721925.1:c.4564del	XP_006721988.1:p.Arg1522AspfsTer?
XM_006721926.2:c.4627del	XP_006721989.1:p.Arg1543AspfsTer?
XM_006721927.1:c.4627del	XP_006721990.1:p.Arg1543AspfsTer?
XM_006721928.2:c.4627del	XP_006721991.1:p.Arg1543AspfsTer?
XM_011524852.1:c.4624del	XP_011523154.1:p.Arg1542AspfsTer?
XM_011524853.1:c.4588del	XP_011523155.1:p.Arg1530AspfsTer?
XM_011524854.1:c.4588del	XP_011523156.1:p.Arg1530AspfsTer?
XM_011524855.1:c.4588del	XP_011523157.1:p.Arg1530AspfsTer?
XM_011524856.1:c.4588del	XP_011523158.1:p.Arg1530AspfsTer?
XM_011524857.1:c.4627del	XP_011523159.1:p.Arg1543AspfsTer?
NM_001042492.3:c.4597del MANE Select	NP_001035957.1:p.Arg1533AspfsTer?