Canonical Allele Identifier: CA2499224202

Gene: NF1

Linked Data

• ClinVar Variation Id: 1072662
• ClinVar RCV Id: RCV001385430
• dbSNP Id: rs2151559384

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338793del , CM000679.2:g.31338793del	GRCh38
NC_000017.10:g.29665811del , CM000679.1:g.29665811del	GRCh37
NC_000017.9:g.26689937del	NCBI36
NG_009018.1:g.248817del , LRG_214:g.248817del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6891del	ENSP00000512431.1:p.Leu2298PhefsTer15
ENST00000684826.1:c.1473del	ENSP00000509994.1:p.Leu492PhefsTer15
ENST00000684998.1:n.2731del
ENST00000687027.1:c.1065del	ENSP00000508715.1:p.Leu356PhefsTer15
ENST00000687863.1:n.3554del
ENST00000691014.1:c.6939del	ENSP00000510595.1:p.Leu2314PhefsTer15
ENST00000693617.1:c.1473del	ENSP00000510031.1:p.Leu492PhefsTer15
ENST00000358273.9:c.6909del MANE Select	ENSP00000351015.4:p.Leu2304PhefsTer15
ENST00000356175.7:c.6846del	ENSP00000348498.3:p.Leu2283PhefsTer15
ENST00000358273.8:c.6909del	ENSP00000351015.4:p.Leu2304PhefsTer15
ENST00000456735.6:c.5844del	ENSP00000389907.2:p.Leu1949PhefsTer15
ENST00000471572.6:c.292del
ENST00000579081.5:c.7045del	ENSP00000462408.1:n.7045del
ENST00000581790.5:c.64+913del
ENST00000584328.1:n.323del
NM_000267.3:c.6846del , LRG_214t1:c.6846del	NP_000258.1:p.Leu2283PhefsTer15
NM_001042492.2:c.6909del , LRG_214t2:c.6909del	NP_001035957.1:p.Leu2304PhefsTer15
XM_005257983.1:c.6909del	XP_005258040.1:p.Leu2304PhefsTer15
XM_005257984.1:c.6846del	XP_005258041.1:p.Leu2283PhefsTer15
XM_006721922.1:c.6939del	XP_006721985.1:p.Leu2314PhefsTer15
XM_006721923.2:c.6900del	XP_006721986.1:p.Leu2301PhefsTer15
XM_006721924.1:c.6939del	XP_006721987.1:p.Leu2314PhefsTer15
XM_006721925.1:c.6876del	XP_006721988.1:p.Leu2293PhefsTer15
XM_006721926.2:c.6939del	XP_006721989.1:p.Leu2314PhefsTer15
XM_006721927.1:c.6939del	XP_006721990.1:p.Leu2314PhefsTer15
XM_011524852.1:c.6936del	XP_011523154.1:p.Leu2313PhefsTer15
XM_011524853.1:c.6900del	XP_011523155.1:p.Leu2301PhefsTer15
XM_011524854.1:c.6900del	XP_011523156.1:p.Leu2301PhefsTer15
XM_011524855.1:c.6900del	XP_011523157.1:p.Leu2301PhefsTer15
XM_011524856.1:c.6900del	XP_011523158.1:p.Leu2301PhefsTer15
XM_011524857.1:c.6939del	XP_011523159.1:p.Leu2314PhefsTer15
NM_001042492.3:c.6909del MANE Select	NP_001035957.1:p.Leu2304PhefsTer15