Canonical Allele Identifier: CA1139665455

Gene: NF1

Linked Data

• dbSNP Id: rs2069724582

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338028del , CM000679.2:g.31338028del	GRCh38
NC_000017.10:g.29665046del , CM000679.1:g.29665046del	GRCh37
NC_000017.9:g.26689172del	NCBI36
NG_009018.1:g.248052del , LRG_214:g.248052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6690del	ENSP00000512431.1:p.Phe2230LeufsTer29
ENST00000684826.1:c.1272del	ENSP00000509994.1:p.Phe424LeufsTer29
ENST00000684998.1:n.1966del
ENST00000687027.1:c.864del	ENSP00000508715.1:p.Phe288LeufsTer29
ENST00000687863.1:n.3353del
ENST00000691014.1:c.6738del	ENSP00000510595.1:p.Phe2246LeufsTer29
ENST00000693617.1:c.1272del	ENSP00000510031.1:p.Phe424LeufsTer29
ENST00000358273.9:c.6708del MANE Select	ENSP00000351015.4:p.Phe2236LeufsTer29
ENST00000356175.7:c.6645del	ENSP00000348498.3:p.Phe2215LeufsTer29
ENST00000358273.8:c.6708del	ENSP00000351015.4:p.Phe2236LeufsTer29
ENST00000456735.6:c.5643del	ENSP00000389907.2:p.Phe1881LeufsTer29
ENST00000471572.6:c.91del
ENST00000579081.5:c.6844del	ENSP00000462408.1:n.6844del
ENST00000581790.5:c.64+148del
ENST00000584328.1:n.122del
NM_000267.3:c.6645del , LRG_214t1:c.6645del	NP_000258.1:p.Phe2215LeufsTer29
NM_001042492.2:c.6708del , LRG_214t2:c.6708del	NP_001035957.1:p.Phe2236LeufsTer29
XM_005257983.1:c.6708del	XP_005258040.1:p.Phe2236LeufsTer29
XM_005257984.1:c.6645del	XP_005258041.1:p.Phe2215LeufsTer29
XM_006721922.1:c.6738del	XP_006721985.1:p.Phe2246LeufsTer29
XM_006721923.2:c.6699del	XP_006721986.1:p.Phe2233LeufsTer29
XM_006721924.1:c.6738del	XP_006721987.1:p.Phe2246LeufsTer29
XM_006721925.1:c.6675del	XP_006721988.1:p.Phe2225LeufsTer29
XM_006721926.2:c.6738del	XP_006721989.1:p.Phe2246LeufsTer29
XM_006721927.1:c.6738del	XP_006721990.1:p.Phe2246LeufsTer29
XM_011524852.1:c.6735del	XP_011523154.1:p.Phe2245LeufsTer29
XM_011524853.1:c.6699del	XP_011523155.1:p.Phe2233LeufsTer29
XM_011524854.1:c.6699del	XP_011523156.1:p.Phe2233LeufsTer29
XM_011524855.1:c.6699del	XP_011523157.1:p.Phe2233LeufsTer29
XM_011524856.1:c.6699del	XP_011523158.1:p.Phe2233LeufsTer29
XM_011524857.1:c.6738del	XP_011523159.1:p.Phe2246LeufsTer29
NM_001042492.3:c.6708del MANE Select	NP_001035957.1:p.Phe2236LeufsTer29