Canonical Allele Identifier: CA2695225179

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338711_31338718del , CM000679.2:g.31338711_31338718del	GRCh38
NC_000017.10:g.29665729_29665736del , CM000679.1:g.29665729_29665736del	GRCh37
NC_000017.9:g.26689855_26689862del	NCBI36
NG_009018.1:g.248735_248742del , LRG_214:g.248735_248742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6809_6816del	ENSP00000512431.1:p.Glu2270ValfsTer5
ENST00000684826.1:c.1391_1398del	ENSP00000509994.1:p.Glu464ValfsTer5
ENST00000684998.1:n.2649_2656del
ENST00000687027.1:c.983_990del	ENSP00000508715.1:p.Glu328ValfsTer5
ENST00000687863.1:n.3472_3479del
ENST00000691014.1:c.6857_6864del	ENSP00000510595.1:p.Glu2286ValfsTer5
ENST00000693617.1:c.1391_1398del	ENSP00000510031.1:p.Glu464ValfsTer5
ENST00000358273.9:c.6827_6834del MANE Select	ENSP00000351015.4:p.Glu2276ValfsTer5
ENST00000356175.7:c.6764_6771del	ENSP00000348498.3:p.Glu2255ValfsTer5
ENST00000358273.8:c.6827_6834del	ENSP00000351015.4:p.Glu2276ValfsTer5
ENST00000456735.6:c.5762_5769del	ENSP00000389907.2:p.Glu1921ValfsTer5
ENST00000471572.6:c.210_217del
ENST00000579081.5:c.6963_6970del	ENSP00000462408.1:n.6963_6970del
ENST00000581790.5:c.64+831_64+838del
ENST00000584328.1:n.241_248del
NM_000267.3:c.6764_6771del , LRG_214t1:c.6764_6771del	NP_000258.1:p.Glu2255ValfsTer5
NM_001042492.2:c.6827_6834del , LRG_214t2:c.6827_6834del	NP_001035957.1:p.Glu2276ValfsTer5
XM_005257983.1:c.6827_6834del	XP_005258040.1:p.Glu2276ValfsTer5
XM_005257984.1:c.6764_6771del	XP_005258041.1:p.Glu2255ValfsTer5
XM_006721922.1:c.6857_6864del	XP_006721985.1:p.Glu2286ValfsTer5
XM_006721923.2:c.6818_6825del	XP_006721986.1:p.Glu2273ValfsTer5
XM_006721924.1:c.6857_6864del	XP_006721987.1:p.Glu2286ValfsTer5
XM_006721925.1:c.6794_6801del	XP_006721988.1:p.Glu2265ValfsTer5
XM_006721926.2:c.6857_6864del	XP_006721989.1:p.Glu2286ValfsTer5
XM_006721927.1:c.6857_6864del	XP_006721990.1:p.Glu2286ValfsTer5
XM_011524852.1:c.6854_6861del	XP_011523154.1:p.Glu2285ValfsTer5
XM_011524853.1:c.6818_6825del	XP_011523155.1:p.Glu2273ValfsTer5
XM_011524854.1:c.6818_6825del	XP_011523156.1:p.Glu2273ValfsTer5
XM_011524855.1:c.6818_6825del	XP_011523157.1:p.Glu2273ValfsTer5
XM_011524856.1:c.6818_6825del	XP_011523158.1:p.Glu2273ValfsTer5
XM_011524857.1:c.6857_6864del	XP_011523159.1:p.Glu2286ValfsTer5
NM_001042492.3:c.6827_6834del MANE Select	NP_001035957.1:p.Glu2276ValfsTer5