Canonical Allele Identifier: CA916080682

Gene: NF1

Linked Data

• ClinVar Variation Id: 862375
• ClinVar RCV Id: RCV001069083 ; RCV003442198
• dbSNP Id: rs2070298589

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357346_31357347del , CM000679.2:g.31357346_31357347del	GRCh38
NC_000017.10:g.29684364_29684365del , CM000679.1:g.29684364_29684365del	GRCh37
NC_000017.9:g.26708490_26708491del	NCBI36
NG_009018.1:g.267370_267371del , LRG_214:g.267370_267371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7929_7930del	ENSP00000512431.1:p.Phe2644SerfsTer9
ENST00000684826.1:c.2511_2512del	ENSP00000509994.1:p.Phe838SerfsTer9
ENST00000687027.1:c.2103_2104del	ENSP00000508715.1:p.Phe702SerfsTer9
ENST00000687863.1:n.4592_4593del
ENST00000689464.1:c.997_998del
ENST00000691014.1:c.7977_7978del	ENSP00000510595.1:p.Phe2660SerfsTer9
ENST00000693617.1:c.2511_2512del	ENSP00000510031.1:p.Phe838SerfsTer9
ENST00000358273.9:c.7947_7948del MANE Select	ENSP00000351015.4:p.Phe2650SerfsTer9
ENST00000356175.7:c.7884_7885del	ENSP00000348498.3:p.Phe2629SerfsTer9
ENST00000358273.8:c.7947_7948del	ENSP00000351015.4:p.Phe2650SerfsTer9
ENST00000456735.6:c.6882_6883del	ENSP00000389907.2:p.Phe2295SerfsTer9
ENST00000471572.6:c.1330_1331del
ENST00000577967.1:n.1543_1544del
ENST00000579081.5:c.8083_8084del	ENSP00000462408.1:n.8083_8084del
ENST00000581790.5:c.932_933del
NM_000267.3:c.7884_7885del , LRG_214t1:c.7884_7885del	NP_000258.1:p.Phe2629SerfsTer9
NM_001042492.2:c.7947_7948del , LRG_214t2:c.7947_7948del	NP_001035957.1:p.Phe2650SerfsTer9
XM_005257983.1:c.7947_7948del	XP_005258040.1:p.Phe2650SerfsTer9
XM_005257984.1:c.7884_7885del	XP_005258041.1:p.Phe2629SerfsTer9
XM_006721922.1:c.7977_7978del	XP_006721985.1:p.Phe2660SerfsTer9
XM_006721923.2:c.7938_7939del	XP_006721986.1:p.Phe2647SerfsTer9
XM_006721924.1:c.7977_7978del	XP_006721987.1:p.Phe2660SerfsTer9
XM_006721925.1:c.7914_7915del	XP_006721988.1:p.Phe2639SerfsTer9
XM_006721926.2:c.7977_7978del	XP_006721989.1:p.Phe2660SerfsTer9
XM_006721927.1:c.7977_7978del	XP_006721990.1:p.Phe2660SerfsTer9
XM_011524852.1:c.7974_7975del	XP_011523154.1:p.Phe2659SerfsTer9
XM_011524853.1:c.7938_7939del	XP_011523155.1:p.Phe2647SerfsTer9
XM_011524854.1:c.7938_7939del	XP_011523156.1:p.Phe2647SerfsTer9
XM_011524855.1:c.7938_7939del	XP_011523157.1:p.Phe2647SerfsTer9
XM_011524856.1:c.7938_7939del	XP_011523158.1:p.Phe2647SerfsTer9
XM_011524857.1:c.7854_7855del	XP_011523159.1:p.Phe2619SerfsTer9
NM_001042492.3:c.7947_7948del MANE Select	NP_001035957.1:p.Phe2650SerfsTer9