Canonical Allele Identifier: CA1139665460

Gene: NF1

Linked Data

• ClinVar Variation Id: 938606
• ClinVar RCV Id: RCV001207863
• dbSNP Id: rs2069743464

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338729del , CM000679.2:g.31338729del	GRCh38
NC_000017.10:g.29665747del , CM000679.1:g.29665747del	GRCh37
NC_000017.9:g.26689873del	NCBI36
NG_009018.1:g.248753del , LRG_214:g.248753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6827del	ENSP00000512431.1:p.Pro2276LeufsTer9
ENST00000684826.1:c.1409del	ENSP00000509994.1:p.Pro470LeufsTer9
ENST00000684998.1:n.2667del
ENST00000687027.1:c.1001del	ENSP00000508715.1:p.Pro334LeufsTer9
ENST00000687863.1:n.3490del
ENST00000691014.1:c.6875del	ENSP00000510595.1:p.Pro2292LeufsTer9
ENST00000693617.1:c.1409del	ENSP00000510031.1:p.Pro470LeufsTer9
ENST00000358273.9:c.6845del MANE Select	ENSP00000351015.4:p.Pro2282LeufsTer9
ENST00000356175.7:c.6782del	ENSP00000348498.3:p.Pro2261LeufsTer9
ENST00000358273.8:c.6845del	ENSP00000351015.4:p.Pro2282LeufsTer9
ENST00000456735.6:c.5780del	ENSP00000389907.2:p.Pro1927LeufsTer9
ENST00000471572.6:c.228del
ENST00000579081.5:c.6981del	ENSP00000462408.1:n.6981del
ENST00000581790.5:c.64+849del
ENST00000584328.1:n.259del
NM_000267.3:c.6782del , LRG_214t1:c.6782del	NP_000258.1:p.Pro2261LeufsTer9
NM_001042492.2:c.6845del , LRG_214t2:c.6845del	NP_001035957.1:p.Pro2282LeufsTer9
XM_005257983.1:c.6845del	XP_005258040.1:p.Pro2282LeufsTer9
XM_005257984.1:c.6782del	XP_005258041.1:p.Pro2261LeufsTer9
XM_006721922.1:c.6875del	XP_006721985.1:p.Pro2292LeufsTer9
XM_006721923.2:c.6836del	XP_006721986.1:p.Pro2279LeufsTer9
XM_006721924.1:c.6875del	XP_006721987.1:p.Pro2292LeufsTer9
XM_006721925.1:c.6812del	XP_006721988.1:p.Pro2271LeufsTer9
XM_006721926.2:c.6875del	XP_006721989.1:p.Pro2292LeufsTer9
XM_006721927.1:c.6875del	XP_006721990.1:p.Pro2292LeufsTer9
XM_011524852.1:c.6872del	XP_011523154.1:p.Pro2291LeufsTer9
XM_011524853.1:c.6836del	XP_011523155.1:p.Pro2279LeufsTer9
XM_011524854.1:c.6836del	XP_011523156.1:p.Pro2279LeufsTer9
XM_011524855.1:c.6836del	XP_011523157.1:p.Pro2279LeufsTer9
XM_011524856.1:c.6836del	XP_011523158.1:p.Pro2279LeufsTer9
XM_011524857.1:c.6875del	XP_011523159.1:p.Pro2292LeufsTer9
NM_001042492.3:c.6845del MANE Select	NP_001035957.1:p.Pro2282LeufsTer9