Canonical Allele Identifier: CA915949661

Gene: NF1

Linked Data

• ClinVar Variation Id: 665381
• ClinVar RCV Id: RCV000823648
• dbSNP Id: rs1597748682

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261714del , CM000679.2:g.31261714del	GRCh38
NC_000017.10:g.29588732del , CM000679.1:g.29588732del	GRCh37
NC_000017.9:g.26612858del	NCBI36
NG_009018.1:g.171738del , LRG_214:g.171738del

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.383del	ENSP00000492721.2:p.Ile128ThrfsTer2
ENST00000696138.1:c.4563del	ENSP00000512431.1:p.His1522IlefsTer?
ENST00000696140.1:n.687del
ENST00000696141.1:c.572del
ENST00000687863.1:n.1226del
ENST00000691014.1:c.4611del	ENSP00000510595.1:p.His1538IlefsTer?
ENST00000358273.9:c.4581del MANE Select	ENSP00000351015.4:p.His1528IlefsTer?
ENST00000356175.7:c.4518del	ENSP00000348498.3:p.His1507IlefsTer?
ENST00000358273.8:c.4581del	ENSP00000351015.4:p.His1528IlefsTer?
ENST00000456735.6:c.3516del	ENSP00000389907.2:p.His1173IlefsTer?
ENST00000466819.5:c.1097del
ENST00000479614.1:c.1034del
ENST00000493220.5:n.3054del
ENST00000579081.5:c.4620del	ENSP00000462408.1:p.His1541IlefsTer?
NM_000267.3:c.4518del , LRG_214t1:c.4518del	NP_000258.1:p.His1507IlefsTer?
NM_001042492.2:c.4581del , LRG_214t2:c.4581del	NP_001035957.1:p.His1528IlefsTer?
XM_005257983.1:c.4581del	XP_005258040.1:p.His1528IlefsTer?
XM_005257984.1:c.4518del	XP_005258041.1:p.His1507IlefsTer?
XM_006721922.1:c.4611del	XP_006721985.1:p.His1538IlefsTer?
XM_006721923.2:c.4572del	XP_006721986.1:p.His1525IlefsTer?
XM_006721924.1:c.4611del	XP_006721987.1:p.His1538IlefsTer?
XM_006721925.1:c.4548del	XP_006721988.1:p.His1517IlefsTer?
XM_006721926.2:c.4611del	XP_006721989.1:p.His1538IlefsTer?
XM_006721927.1:c.4611del	XP_006721990.1:p.His1538IlefsTer?
XM_006721928.2:c.4611del	XP_006721991.1:p.His1538IlefsTer?
XM_011524852.1:c.4608del	XP_011523154.1:p.His1537IlefsTer?
XM_011524853.1:c.4572del	XP_011523155.1:p.His1525IlefsTer?
XM_011524854.1:c.4572del	XP_011523156.1:p.His1525IlefsTer?
XM_011524855.1:c.4572del	XP_011523157.1:p.His1525IlefsTer?
XM_011524856.1:c.4572del	XP_011523158.1:p.His1525IlefsTer?
XM_011524857.1:c.4611del	XP_011523159.1:p.His1538IlefsTer?
NM_001042492.3:c.4581del MANE Select	NP_001035957.1:p.His1528IlefsTer?