Canonical Allele Identifier: CA728026808

Gene: NF1

Linked Data

• dbSNP Id: rs1413372405
• MyVariant Identifiers: chr17:g.29665761del (hg19) ; chr17:g.31338743del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338743del , CM000679.2:g.31338743del	GRCh38
NC_000017.10:g.29665761del , CM000679.1:g.29665761del	GRCh37
NC_000017.9:g.26689887del	NCBI36
NG_009018.1:g.248767del , LRG_214:g.248767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6841del	ENSP00000512431.1:p.Ser2281ValfsTer4
ENST00000684826.1:c.1423del	ENSP00000509994.1:p.Ser475ValfsTer4
ENST00000684998.1:n.2681del
ENST00000687027.1:c.1015del	ENSP00000508715.1:p.Ser339ValfsTer4
ENST00000687863.1:n.3504del
ENST00000691014.1:c.6889del	ENSP00000510595.1:p.Ser2297ValfsTer4
ENST00000693617.1:c.1423del	ENSP00000510031.1:p.Ser475ValfsTer4
ENST00000358273.9:c.6859del MANE Select	ENSP00000351015.4:p.Ser2287ValfsTer4
ENST00000356175.7:c.6796del	ENSP00000348498.3:p.Ser2266ValfsTer4
ENST00000358273.8:c.6859del	ENSP00000351015.4:p.Ser2287ValfsTer4
ENST00000456735.6:c.5794del	ENSP00000389907.2:p.Ser1932ValfsTer4
ENST00000471572.6:c.242del
ENST00000579081.5:c.6995del	ENSP00000462408.1:n.6995del
ENST00000581790.5:c.64+863del
ENST00000584328.1:n.273del
NM_000267.3:c.6796del , LRG_214t1:c.6796del	NP_000258.1:p.Ser2266ValfsTer4
NM_001042492.2:c.6859del , LRG_214t2:c.6859del	NP_001035957.1:p.Ser2287ValfsTer4
XM_005257983.1:c.6859del	XP_005258040.1:p.Ser2287ValfsTer4
XM_005257984.1:c.6796del	XP_005258041.1:p.Ser2266ValfsTer4
XM_006721922.1:c.6889del	XP_006721985.1:p.Ser2297ValfsTer4
XM_006721923.2:c.6850del	XP_006721986.1:p.Ser2284ValfsTer4
XM_006721924.1:c.6889del	XP_006721987.1:p.Ser2297ValfsTer4
XM_006721925.1:c.6826del	XP_006721988.1:p.Ser2276ValfsTer4
XM_006721926.2:c.6889del	XP_006721989.1:p.Ser2297ValfsTer4
XM_006721927.1:c.6889del	XP_006721990.1:p.Ser2297ValfsTer4
XM_011524852.1:c.6886del	XP_011523154.1:p.Ser2296ValfsTer4
XM_011524853.1:c.6850del	XP_011523155.1:p.Ser2284ValfsTer4
XM_011524854.1:c.6850del	XP_011523156.1:p.Ser2284ValfsTer4
XM_011524855.1:c.6850del	XP_011523157.1:p.Ser2284ValfsTer4
XM_011524856.1:c.6850del	XP_011523158.1:p.Ser2284ValfsTer4
XM_011524857.1:c.6889del	XP_011523159.1:p.Ser2297ValfsTer4
NM_001042492.3:c.6859del MANE Select	NP_001035957.1:p.Ser2287ValfsTer4