Canonical Allele Identifier: CA645369652

Gene: NF1

Linked Data

• ClinVar Variation Id: 428959
• ClinVar RCV Id: RCV000492317
• dbSNP Id: rs1131691082
• MyVariant Identifiers: chr17:g.29670066del (hg19) ; chr17:g.31343048del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343048del , CM000679.2:g.31343048del	GRCh38
NC_000017.10:g.29670066del , CM000679.1:g.29670066del	GRCh37
NC_000017.9:g.26694192del	NCBI36
NG_009018.1:g.253072del , LRG_214:g.253072del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7084del	ENSP00000512431.1:p.Glu2362SerfsTer28
ENST00000684826.1:c.1666del	ENSP00000509994.1:p.Glu556SerfsTer28
ENST00000687027.1:c.1258del	ENSP00000508715.1:p.Glu420SerfsTer28
ENST00000687863.1:n.3747del
ENST00000689464.1:c.41del
ENST00000691014.1:c.7132del	ENSP00000510595.1:p.Glu2378SerfsTer28
ENST00000693617.1:c.1666del	ENSP00000510031.1:p.Glu556SerfsTer28
ENST00000358273.9:c.7102del MANE Select	ENSP00000351015.4:p.Glu2368SerfsTer28
ENST00000356175.7:c.7039del	ENSP00000348498.3:p.Glu2347SerfsTer28
ENST00000358273.8:c.7102del	ENSP00000351015.4:p.Glu2368SerfsTer28
ENST00000456735.6:c.6037del	ENSP00000389907.2:p.Glu2013SerfsTer28
ENST00000471572.6:c.485del
ENST00000579081.5:c.7238del	ENSP00000462408.1:n.7238del
ENST00000581790.5:c.245del
ENST00000582892.1:n.344del
ENST00000584328.1:n.516del
NM_000267.3:c.7039del , LRG_214t1:c.7039del	NP_000258.1:p.Glu2347SerfsTer28
NM_001042492.2:c.7102del , LRG_214t2:c.7102del	NP_001035957.1:p.Glu2368SerfsTer28
XM_005257983.1:c.7102del	XP_005258040.1:p.Glu2368SerfsTer28
XM_005257984.1:c.7039del	XP_005258041.1:p.Glu2347SerfsTer28
XM_006721922.1:c.7132del	XP_006721985.1:p.Glu2378SerfsTer28
XM_006721923.2:c.7093del	XP_006721986.1:p.Glu2365SerfsTer28
XM_006721924.1:c.7132del	XP_006721987.1:p.Glu2378SerfsTer28
XM_006721925.1:c.7069del	XP_006721988.1:p.Glu2357SerfsTer28
XM_006721926.2:c.7132del	XP_006721989.1:p.Glu2378SerfsTer28
XM_006721927.1:c.7132del	XP_006721990.1:p.Glu2378SerfsTer28
XM_011524852.1:c.7129del	XP_011523154.1:p.Glu2377SerfsTer28
XM_011524853.1:c.7093del	XP_011523155.1:p.Glu2365SerfsTer28
XM_011524854.1:c.7093del	XP_011523156.1:p.Glu2365SerfsTer28
XM_011524855.1:c.7093del	XP_011523157.1:p.Glu2365SerfsTer28
XM_011524856.1:c.7093del	XP_011523158.1:p.Glu2365SerfsTer28
XM_011524857.1:c.7132del	XP_011523159.1:p.Glu2378SerfsTer28
NM_001042492.3:c.7102del MANE Select	NP_001035957.1:p.Glu2368SerfsTer28