Canonical Allele Identifier: CA2695225431

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265335del , CM000679.2:g.31265335del	GRCh38
NC_000017.10:g.29592353del , CM000679.1:g.29592353del	GRCh37
NC_000017.9:g.26616479del	NCBI36
NG_009018.1:g.175359del , LRG_214:g.175359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.633del	ENSP00000492721.2:n.633del
ENST00000696138.1:c.4813del	ENSP00000512431.1:p.Arg1605GlyfsTer13
ENST00000696140.1:n.937del
ENST00000696141.1:c.822del
ENST00000687863.1:n.1476del
ENST00000691014.1:c.4861del	ENSP00000510595.1:p.Arg1621GlyfsTer13
ENST00000358273.9:c.4831del MANE Select	ENSP00000351015.4:p.Arg1611GlyfsTer13
ENST00000356175.7:c.4768del	ENSP00000348498.3:p.Arg1590GlyfsTer13
ENST00000358273.8:c.4831del	ENSP00000351015.4:p.Arg1611GlyfsTer13
ENST00000456735.6:c.3766del	ENSP00000389907.2:p.Arg1256GlyfsTer13
ENST00000493220.5:n.3304del
ENST00000579081.5:c.4870del	ENSP00000462408.1:p.Arg1624GlyfsTer9
NM_000267.3:c.4768del , LRG_214t1:c.4768del	NP_000258.1:p.Arg1590GlyfsTer13
NM_001042492.2:c.4831del , LRG_214t2:c.4831del	NP_001035957.1:p.Arg1611GlyfsTer13
XM_005257983.1:c.4831del	XP_005258040.1:p.Arg1611GlyfsTer13
XM_005257984.1:c.4768del	XP_005258041.1:p.Arg1590GlyfsTer13
XM_006721922.1:c.4861del	XP_006721985.1:p.Arg1621GlyfsTer13
XM_006721923.2:c.4822del	XP_006721986.1:p.Arg1608GlyfsTer13
XM_006721924.1:c.4861del	XP_006721987.1:p.Arg1621GlyfsTer13
XM_006721925.1:c.4798del	XP_006721988.1:p.Arg1600GlyfsTer13
XM_006721926.2:c.4861del	XP_006721989.1:p.Arg1621GlyfsTer13
XM_006721927.1:c.4861del	XP_006721990.1:p.Arg1621GlyfsTer13
XM_006721928.2:c.4861del	XP_006721991.1:p.Arg1621GlyfsTer?
XM_011524852.1:c.4858del	XP_011523154.1:p.Arg1620GlyfsTer13
XM_011524853.1:c.4822del	XP_011523155.1:p.Arg1608GlyfsTer13
XM_011524854.1:c.4822del	XP_011523156.1:p.Arg1608GlyfsTer13
XM_011524855.1:c.4822del	XP_011523157.1:p.Arg1608GlyfsTer13
XM_011524856.1:c.4822del	XP_011523158.1:p.Arg1608GlyfsTer13
XM_011524857.1:c.4861del	XP_011523159.1:p.Arg1621GlyfsTer13
NM_001042492.3:c.4831del MANE Select	NP_001035957.1:p.Arg1611GlyfsTer13