Canonical Allele Identifier: CA2695225177

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338711_31338717del , CM000679.2:g.31338711_31338717del	GRCh38
NC_000017.10:g.29665729_29665735del , CM000679.1:g.29665729_29665735del	GRCh37
NC_000017.9:g.26689855_26689861del	NCBI36
NG_009018.1:g.248735_248741del , LRG_214:g.248735_248741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6809_6815del	ENSP00000512431.1:p.Glu2270AlafsTer2
ENST00000684826.1:c.1391_1397del	ENSP00000509994.1:p.Glu464AlafsTer2
ENST00000684998.1:n.2649_2655del
ENST00000687027.1:c.983_989del	ENSP00000508715.1:p.Glu328AlafsTer2
ENST00000687863.1:n.3472_3478del
ENST00000691014.1:c.6857_6863del	ENSP00000510595.1:p.Glu2286AlafsTer2
ENST00000693617.1:c.1391_1397del	ENSP00000510031.1:p.Glu464AlafsTer2
ENST00000358273.9:c.6827_6833del MANE Select	ENSP00000351015.4:p.Glu2276AlafsTer2
ENST00000356175.7:c.6764_6770del	ENSP00000348498.3:p.Glu2255AlafsTer2
ENST00000358273.8:c.6827_6833del	ENSP00000351015.4:p.Glu2276AlafsTer2
ENST00000456735.6:c.5762_5768del	ENSP00000389907.2:p.Glu1921AlafsTer2
ENST00000471572.6:c.210_216del
ENST00000579081.5:c.6963_6969del	ENSP00000462408.1:n.6963_6969del
ENST00000581790.5:c.64+831_64+837del
ENST00000584328.1:n.241_247del
NM_000267.3:c.6764_6770del , LRG_214t1:c.6764_6770del	NP_000258.1:p.Glu2255AlafsTer2
NM_001042492.2:c.6827_6833del , LRG_214t2:c.6827_6833del	NP_001035957.1:p.Glu2276AlafsTer2
XM_005257983.1:c.6827_6833del	XP_005258040.1:p.Glu2276AlafsTer2
XM_005257984.1:c.6764_6770del	XP_005258041.1:p.Glu2255AlafsTer2
XM_006721922.1:c.6857_6863del	XP_006721985.1:p.Glu2286AlafsTer2
XM_006721923.2:c.6818_6824del	XP_006721986.1:p.Glu2273AlafsTer2
XM_006721924.1:c.6857_6863del	XP_006721987.1:p.Glu2286AlafsTer2
XM_006721925.1:c.6794_6800del	XP_006721988.1:p.Glu2265AlafsTer2
XM_006721926.2:c.6857_6863del	XP_006721989.1:p.Glu2286AlafsTer2
XM_006721927.1:c.6857_6863del	XP_006721990.1:p.Glu2286AlafsTer2
XM_011524852.1:c.6854_6860del	XP_011523154.1:p.Glu2285AlafsTer2
XM_011524853.1:c.6818_6824del	XP_011523155.1:p.Glu2273AlafsTer2
XM_011524854.1:c.6818_6824del	XP_011523156.1:p.Glu2273AlafsTer2
XM_011524855.1:c.6818_6824del	XP_011523157.1:p.Glu2273AlafsTer2
XM_011524856.1:c.6818_6824del	XP_011523158.1:p.Glu2273AlafsTer2
XM_011524857.1:c.6857_6863del	XP_011523159.1:p.Glu2286AlafsTer2
NM_001042492.3:c.6827_6833del MANE Select	NP_001035957.1:p.Glu2276AlafsTer2