Canonical Allele Identifier: CA2733617030

Gene: NF1

Linked Data

• dbSNP Id: rs2151564990

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343030del , CM000679.2:g.31343030del	GRCh38
NC_000017.10:g.29670048del , CM000679.1:g.29670048del	GRCh37
NC_000017.9:g.26694174del	NCBI36
NG_009018.1:g.253054del , LRG_214:g.253054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7066del	ENSP00000512431.1:p.Ala2356GlnfsTer?
ENST00000684826.1:c.1648del	ENSP00000509994.1:p.Ala550GlnfsTer?
ENST00000687027.1:c.1240del	ENSP00000508715.1:p.Ala414GlnfsTer?
ENST00000687863.1:n.3729del
ENST00000689464.1:c.23del
ENST00000691014.1:c.7114del	ENSP00000510595.1:p.Ala2372GlnfsTer?
ENST00000693617.1:c.1648del	ENSP00000510031.1:p.Ala550GlnfsTer?
ENST00000358273.9:c.7084del MANE Select	ENSP00000351015.4:p.Ala2362GlnfsTer?
ENST00000356175.7:c.7021del	ENSP00000348498.3:p.Ala2341GlnfsTer?
ENST00000358273.8:c.7084del	ENSP00000351015.4:p.Ala2362GlnfsTer?
ENST00000456735.6:c.6019del	ENSP00000389907.2:p.Ala2007GlnfsTer?
ENST00000471572.6:c.467del
ENST00000579081.5:c.7220del	ENSP00000462408.1:n.7220del
ENST00000581790.5:c.227del
ENST00000582892.1:n.326del
ENST00000584328.1:n.498del
NM_000267.3:c.7021del , LRG_214t1:c.7021del	NP_000258.1:p.Ala2341GlnfsTer?
NM_001042492.2:c.7084del , LRG_214t2:c.7084del	NP_001035957.1:p.Ala2362GlnfsTer?
XM_005257983.1:c.7084del	XP_005258040.1:p.Ala2362GlnfsTer?
XM_005257984.1:c.7021del	XP_005258041.1:p.Ala2341GlnfsTer?
XM_006721922.1:c.7114del	XP_006721985.1:p.Ala2372GlnfsTer?
XM_006721923.2:c.7075del	XP_006721986.1:p.Ala2359GlnfsTer?
XM_006721924.1:c.7114del	XP_006721987.1:p.Ala2372GlnfsTer?
XM_006721925.1:c.7051del	XP_006721988.1:p.Ala2351GlnfsTer?
XM_006721926.2:c.7114del	XP_006721989.1:p.Ala2372GlnfsTer?
XM_006721927.1:c.7114del	XP_006721990.1:p.Ala2372GlnfsTer?
XM_011524852.1:c.7111del	XP_011523154.1:p.Ala2371GlnfsTer?
XM_011524853.1:c.7075del	XP_011523155.1:p.Ala2359GlnfsTer?
XM_011524854.1:c.7075del	XP_011523156.1:p.Ala2359GlnfsTer?
XM_011524855.1:c.7075del	XP_011523157.1:p.Ala2359GlnfsTer?
XM_011524856.1:c.7075del	XP_011523158.1:p.Ala2359GlnfsTer?
XM_011524857.1:c.7114del	XP_011523159.1:p.Ala2372GlnfsTer?
NM_001042492.3:c.7084del MANE Select	NP_001035957.1:p.Ala2362GlnfsTer?