Canonical Allele Identifier: CA2695225187

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338757_31338761del , CM000679.2:g.31338757_31338761del	GRCh38
NC_000017.10:g.29665775_29665779del , CM000679.1:g.29665775_29665779del	GRCh37
NC_000017.9:g.26689901_26689905del	NCBI36
NG_009018.1:g.248781_248785del , LRG_214:g.248781_248785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6855_6859del	ENSP00000512431.1:p.Glu2286TyrfsTer13
ENST00000684826.1:c.1437_1441del	ENSP00000509994.1:p.Glu480TyrfsTer13
ENST00000684998.1:n.2695_2699del
ENST00000687027.1:c.1029_1033del	ENSP00000508715.1:p.Glu344TyrfsTer13
ENST00000687863.1:n.3518_3522del
ENST00000691014.1:c.6903_6907del	ENSP00000510595.1:p.Glu2302TyrfsTer13
ENST00000693617.1:c.1437_1441del	ENSP00000510031.1:p.Glu480TyrfsTer13
ENST00000358273.9:c.6873_6877del MANE Select	ENSP00000351015.4:p.Glu2292TyrfsTer13
ENST00000356175.7:c.6810_6814del	ENSP00000348498.3:p.Glu2271TyrfsTer13
ENST00000358273.8:c.6873_6877del	ENSP00000351015.4:p.Glu2292TyrfsTer13
ENST00000456735.6:c.5808_5812del	ENSP00000389907.2:p.Glu1937TyrfsTer13
ENST00000471572.6:c.256_260del
ENST00000579081.5:c.7009_7013del	ENSP00000462408.1:n.7009_7013del
ENST00000581790.5:c.64+877_64+881del
ENST00000584328.1:n.287_291del
NM_000267.3:c.6810_6814del , LRG_214t1:c.6810_6814del	NP_000258.1:p.Glu2271TyrfsTer13
NM_001042492.2:c.6873_6877del , LRG_214t2:c.6873_6877del	NP_001035957.1:p.Glu2292TyrfsTer13
XM_005257983.1:c.6873_6877del	XP_005258040.1:p.Glu2292TyrfsTer13
XM_005257984.1:c.6810_6814del	XP_005258041.1:p.Glu2271TyrfsTer13
XM_006721922.1:c.6903_6907del	XP_006721985.1:p.Glu2302TyrfsTer13
XM_006721923.2:c.6864_6868del	XP_006721986.1:p.Glu2289TyrfsTer13
XM_006721924.1:c.6903_6907del	XP_006721987.1:p.Glu2302TyrfsTer13
XM_006721925.1:c.6840_6844del	XP_006721988.1:p.Glu2281TyrfsTer13
XM_006721926.2:c.6903_6907del	XP_006721989.1:p.Glu2302TyrfsTer13
XM_006721927.1:c.6903_6907del	XP_006721990.1:p.Glu2302TyrfsTer13
XM_011524852.1:c.6900_6904del	XP_011523154.1:p.Glu2301TyrfsTer13
XM_011524853.1:c.6864_6868del	XP_011523155.1:p.Glu2289TyrfsTer13
XM_011524854.1:c.6864_6868del	XP_011523156.1:p.Glu2289TyrfsTer13
XM_011524855.1:c.6864_6868del	XP_011523157.1:p.Glu2289TyrfsTer13
XM_011524856.1:c.6864_6868del	XP_011523158.1:p.Glu2289TyrfsTer13
XM_011524857.1:c.6903_6907del	XP_011523159.1:p.Glu2302TyrfsTer13
NM_001042492.3:c.6873_6877del MANE Select	NP_001035957.1:p.Glu2292TyrfsTer13