Canonical Allele Identifier: CA2695225178

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338710del , CM000679.2:g.31338710del	GRCh38
NC_000017.10:g.29665728del , CM000679.1:g.29665728del	GRCh37
NC_000017.9:g.26689854del	NCBI36
NG_009018.1:g.248734del , LRG_214:g.248734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6808del	ENSP00000512431.1:p.Glu2270ArgfsTer4
ENST00000684826.1:c.1390del	ENSP00000509994.1:p.Glu464ArgfsTer4
ENST00000684998.1:n.2648del
ENST00000687027.1:c.982del	ENSP00000508715.1:p.Glu328ArgfsTer4
ENST00000687863.1:n.3471del
ENST00000691014.1:c.6856del	ENSP00000510595.1:p.Glu2286ArgfsTer4
ENST00000693617.1:c.1390del	ENSP00000510031.1:p.Glu464ArgfsTer4
ENST00000358273.9:c.6826del MANE Select	ENSP00000351015.4:p.Glu2276ArgfsTer4
ENST00000356175.7:c.6763del	ENSP00000348498.3:p.Glu2255ArgfsTer4
ENST00000358273.8:c.6826del	ENSP00000351015.4:p.Glu2276ArgfsTer4
ENST00000456735.6:c.5761del	ENSP00000389907.2:p.Glu1921ArgfsTer4
ENST00000471572.6:c.209del
ENST00000579081.5:c.6962del	ENSP00000462408.1:n.6962del
ENST00000581790.5:c.64+830del
ENST00000584328.1:n.240del
NM_000267.3:c.6763del , LRG_214t1:c.6763del	NP_000258.1:p.Glu2255ArgfsTer4
NM_001042492.2:c.6826del , LRG_214t2:c.6826del	NP_001035957.1:p.Glu2276ArgfsTer4
XM_005257983.1:c.6826del	XP_005258040.1:p.Glu2276ArgfsTer4
XM_005257984.1:c.6763del	XP_005258041.1:p.Glu2255ArgfsTer4
XM_006721922.1:c.6856del	XP_006721985.1:p.Glu2286ArgfsTer4
XM_006721923.2:c.6817del	XP_006721986.1:p.Glu2273ArgfsTer4
XM_006721924.1:c.6856del	XP_006721987.1:p.Glu2286ArgfsTer4
XM_006721925.1:c.6793del	XP_006721988.1:p.Glu2265ArgfsTer4
XM_006721926.2:c.6856del	XP_006721989.1:p.Glu2286ArgfsTer4
XM_006721927.1:c.6856del	XP_006721990.1:p.Glu2286ArgfsTer4
XM_011524852.1:c.6853del	XP_011523154.1:p.Glu2285ArgfsTer4
XM_011524853.1:c.6817del	XP_011523155.1:p.Glu2273ArgfsTer4
XM_011524854.1:c.6817del	XP_011523156.1:p.Glu2273ArgfsTer4
XM_011524855.1:c.6817del	XP_011523157.1:p.Glu2273ArgfsTer4
XM_011524856.1:c.6817del	XP_011523158.1:p.Glu2273ArgfsTer4
XM_011524857.1:c.6856del	XP_011523159.1:p.Glu2286ArgfsTer4
NM_001042492.3:c.6826del MANE Select	NP_001035957.1:p.Glu2276ArgfsTer4