Canonical Allele Identifier: CA2695225373

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229161_31229163delinsA , CM000679.2:g.31229161_31229163delinsA	GRCh38
NC_000017.10:g.29556179_29556181delinsA , CM000679.1:g.29556179_29556181delinsA	GRCh37
NC_000017.9:g.26580305_26580307delinsA	NCBI36
NG_009018.1:g.139185_139187delinsA , LRG_214:g.139185_139187delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2591_2593delinsA	ENSP00000512431.1:p.Gly864AspfsTer15
ENST00000691014.1:c.2576_2578delinsA	ENSP00000510595.1:p.Gly859AspfsTer15
ENST00000358273.9:c.2546_2548delinsA MANE Select	ENSP00000351015.4:p.Gly849AspfsTer15
ENST00000356175.7:c.2546_2548delinsA	ENSP00000348498.3:p.Gly849AspfsTer15
ENST00000358273.8:c.2546_2548delinsA	ENSP00000351015.4:p.Gly849AspfsTer15
ENST00000456735.6:c.1544_1546delinsA	ENSP00000389907.2:p.Gly515AspfsTer15
ENST00000493220.5:n.713_715delinsA
ENST00000495910.6:c.2321_2323delinsA
ENST00000579081.5:c.2648_2650delinsA	ENSP00000462408.1:p.Gly883AspfsTer15
NM_000267.3:c.2546_2548delinsA , LRG_214t1:c.2546_2548delinsA	NP_000258.1:p.Gly849AspfsTer15
NM_001042492.2:c.2546_2548delinsA , LRG_214t2:c.2546_2548delinsA	NP_001035957.1:p.Gly849AspfsTer15
XM_005257983.1:c.2546_2548delinsA	XP_005258040.1:p.Gly849AspfsTer15
XM_005257984.1:c.2546_2548delinsA	XP_005258041.1:p.Gly849AspfsTer15
XM_006721922.1:c.2576_2578delinsA	XP_006721985.1:p.Gly859AspfsTer15
XM_006721923.2:c.2537_2539delinsA	XP_006721986.1:p.Gly846AspfsTer15
XM_006721924.1:c.2576_2578delinsA	XP_006721987.1:p.Gly859AspfsTer15
XM_006721925.1:c.2576_2578delinsA	XP_006721988.1:p.Gly859AspfsTer15
XM_006721926.2:c.2576_2578delinsA	XP_006721989.1:p.Gly859AspfsTer15
XM_006721927.1:c.2576_2578delinsA	XP_006721990.1:p.Gly859AspfsTer15
XM_006721928.2:c.2576_2578delinsA	XP_006721991.1:p.Gly859AspfsTer15
XM_011524852.1:c.2573_2575delinsA	XP_011523154.1:p.Gly858AspfsTer15
XM_011524853.1:c.2537_2539delinsA	XP_011523155.1:p.Gly846AspfsTer15
XM_011524854.1:c.2537_2539delinsA	XP_011523156.1:p.Gly846AspfsTer15
XM_011524855.1:c.2537_2539delinsA	XP_011523157.1:p.Gly846AspfsTer15
XM_011524856.1:c.2537_2539delinsA	XP_011523158.1:p.Gly846AspfsTer15
XM_011524857.1:c.2576_2578delinsA	XP_011523159.1:p.Gly859AspfsTer15
NM_001042492.3:c.2546_2548delinsA MANE Select	NP_001035957.1:p.Gly849AspfsTer15