Canonical Allele Identifier: CA2697559579

Gene: NF1

Linked Data

• ClinVar Variation Id: 2694686
• ClinVar RCV Id: RCV003495425

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334859del , CM000679.2:g.31334859del	GRCh38
NC_000017.10:g.29661877del , CM000679.1:g.29661877del	GRCh37
NC_000017.9:g.26686003del	NCBI36
NG_009018.1:g.244883del , LRG_214:g.244883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2022del	ENSP00000492721.2:n.2022del
ENST00000696138.1:c.5816del	ENSP00000512431.1:p.Cys1939PhefsTer5
ENST00000684826.1:c.398del	ENSP00000509994.1:p.Cys133PhefsTer5
ENST00000687027.1:c.-11del	ENSP00000508715.1:n.-11del
ENST00000687863.1:n.2479del
ENST00000691014.1:c.5864del	ENSP00000510595.1:p.Cys1955PhefsTer5
ENST00000693617.1:c.398del	ENSP00000510031.1:p.Cys133PhefsTer5
ENST00000358273.9:c.5834del MANE Select	ENSP00000351015.4:p.Cys1945PhefsTer5
ENST00000356175.7:c.5771del	ENSP00000348498.3:p.Cys1924PhefsTer5
ENST00000358273.8:c.5834del	ENSP00000351015.4:p.Cys1945PhefsTer5
ENST00000456735.6:c.4769del	ENSP00000389907.2:p.Cys1590PhefsTer5
ENST00000479536.2:c.259del
ENST00000579081.5:c.5970del	ENSP00000462408.1:n.5970del
ENST00000581113.6:n.1151del
NM_000267.3:c.5771del , LRG_214t1:c.5771del	NP_000258.1:p.Cys1924PhefsTer5
NM_001042492.2:c.5834del , LRG_214t2:c.5834del	NP_001035957.1:p.Cys1945PhefsTer5
XM_005257983.1:c.5834del	XP_005258040.1:p.Cys1945PhefsTer5
XM_005257984.1:c.5771del	XP_005258041.1:p.Cys1924PhefsTer5
XM_006721922.1:c.5864del	XP_006721985.1:p.Cys1955PhefsTer5
XM_006721923.2:c.5825del	XP_006721986.1:p.Cys1942PhefsTer5
XM_006721924.1:c.5864del	XP_006721987.1:p.Cys1955PhefsTer5
XM_006721925.1:c.5801del	XP_006721988.1:p.Cys1934PhefsTer5
XM_006721926.2:c.5864del	XP_006721989.1:p.Cys1955PhefsTer5
XM_006721927.1:c.5864del	XP_006721990.1:p.Cys1955PhefsTer5
XM_011524852.1:c.5861del	XP_011523154.1:p.Cys1954PhefsTer5
XM_011524853.1:c.5825del	XP_011523155.1:p.Cys1942PhefsTer5
XM_011524854.1:c.5825del	XP_011523156.1:p.Cys1942PhefsTer5
XM_011524855.1:c.5825del	XP_011523157.1:p.Cys1942PhefsTer5
XM_011524856.1:c.5825del	XP_011523158.1:p.Cys1942PhefsTer5
XM_011524857.1:c.5864del	XP_011523159.1:p.Cys1955PhefsTer5
NM_001042492.3:c.5834del MANE Select	NP_001035957.1:p.Cys1945PhefsTer5