Canonical Allele Identifier: CA2739267438

Gene: NF1

Linked Data

• ClinVar Variation Id: 2865460
• ClinVar RCV Id: RCV003597608

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338797del , CM000679.2:g.31338797del	GRCh38
NC_000017.10:g.29665815del , CM000679.1:g.29665815del	GRCh37
NC_000017.9:g.26689941del	NCBI36
NG_009018.1:g.248821del , LRG_214:g.248821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6895del	ENSP00000512431.1:p.Asn2300IlefsTer13
ENST00000684826.1:c.1477del	ENSP00000509994.1:p.Asn494IlefsTer13
ENST00000684998.1:n.2735del
ENST00000687027.1:c.1069del	ENSP00000508715.1:p.Asn358IlefsTer13
ENST00000687863.1:n.3558del
ENST00000691014.1:c.6943del	ENSP00000510595.1:p.Asn2316IlefsTer13
ENST00000693617.1:c.1477del	ENSP00000510031.1:p.Asn494IlefsTer13
ENST00000358273.9:c.6913del MANE Select	ENSP00000351015.4:p.Asn2306IlefsTer13
ENST00000356175.7:c.6850del	ENSP00000348498.3:p.Asn2285IlefsTer13
ENST00000358273.8:c.6913del	ENSP00000351015.4:p.Asn2306IlefsTer13
ENST00000456735.6:c.5848del	ENSP00000389907.2:p.Asn1951IlefsTer13
ENST00000471572.6:c.296del
ENST00000579081.5:c.7049del	ENSP00000462408.1:n.7049del
ENST00000581790.5:c.64+917del
ENST00000584328.1:n.327del
NM_000267.3:c.6850del , LRG_214t1:c.6850del	NP_000258.1:p.Asn2285IlefsTer13
NM_001042492.2:c.6913del , LRG_214t2:c.6913del	NP_001035957.1:p.Asn2306IlefsTer13
XM_005257983.1:c.6913del	XP_005258040.1:p.Asn2306IlefsTer13
XM_005257984.1:c.6850del	XP_005258041.1:p.Asn2285IlefsTer13
XM_006721922.1:c.6943del	XP_006721985.1:p.Asn2316IlefsTer13
XM_006721923.2:c.6904del	XP_006721986.1:p.Asn2303IlefsTer13
XM_006721924.1:c.6943del	XP_006721987.1:p.Asn2316IlefsTer13
XM_006721925.1:c.6880del	XP_006721988.1:p.Asn2295IlefsTer13
XM_006721926.2:c.6943del	XP_006721989.1:p.Asn2316IlefsTer13
XM_006721927.1:c.6943del	XP_006721990.1:p.Asn2316IlefsTer13
XM_011524852.1:c.6940del	XP_011523154.1:p.Asn2315IlefsTer13
XM_011524853.1:c.6904del	XP_011523155.1:p.Asn2303IlefsTer13
XM_011524854.1:c.6904del	XP_011523156.1:p.Asn2303IlefsTer13
XM_011524855.1:c.6904del	XP_011523157.1:p.Asn2303IlefsTer13
XM_011524856.1:c.6904del	XP_011523158.1:p.Asn2303IlefsTer13
XM_011524857.1:c.6943del	XP_011523159.1:p.Asn2316IlefsTer13
NM_001042492.3:c.6913del MANE Select	NP_001035957.1:p.Asn2306IlefsTer13