Canonical Allele Identifier: CA2695225418

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265255_31265256insAA , CM000679.2:g.31265255_31265256insAA	GRCh38
NC_000017.10:g.29592273_29592274insAA , CM000679.1:g.29592273_29592274insAA	GRCh37
NC_000017.9:g.26616399_26616400insAA	NCBI36
NG_009018.1:g.175279_175280insAA , LRG_214:g.175279_175280insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.553_554insAA	ENSP00000492721.2:n.553_554insAA
ENST00000696138.1:c.4733_4734insAA	ENSP00000512431.1:p.Phe1578LeufsTer5
ENST00000696140.1:n.857_858insAA
ENST00000696141.1:c.742_743insAA
ENST00000687863.1:n.1396_1397insAA
ENST00000691014.1:c.4781_4782insAA	ENSP00000510595.1:p.Phe1594LeufsTer5
ENST00000358273.9:c.4751_4752insAA MANE Select	ENSP00000351015.4:p.Phe1584LeufsTer5
ENST00000356175.7:c.4688_4689insAA	ENSP00000348498.3:p.Phe1563LeufsTer5
ENST00000358273.8:c.4751_4752insAA	ENSP00000351015.4:p.Phe1584LeufsTer5
ENST00000456735.6:c.3686_3687insAA	ENSP00000389907.2:p.Phe1229LeufsTer5
ENST00000493220.5:n.3224_3225insAA
ENST00000579081.5:c.4790_4791insAA	ENSP00000462408.1:p.Phe1597LeufsTer5
NM_000267.3:c.4688_4689insAA , LRG_214t1:c.4688_4689insAA	NP_000258.1:p.Phe1563LeufsTer5
NM_001042492.2:c.4751_4752insAA , LRG_214t2:c.4751_4752insAA	NP_001035957.1:p.Phe1584LeufsTer5
XM_005257983.1:c.4751_4752insAA	XP_005258040.1:p.Phe1584LeufsTer5
XM_005257984.1:c.4688_4689insAA	XP_005258041.1:p.Phe1563LeufsTer5
XM_006721922.1:c.4781_4782insAA	XP_006721985.1:p.Phe1594LeufsTer5
XM_006721923.2:c.4742_4743insAA	XP_006721986.1:p.Phe1581LeufsTer5
XM_006721924.1:c.4781_4782insAA	XP_006721987.1:p.Phe1594LeufsTer5
XM_006721925.1:c.4718_4719insAA	XP_006721988.1:p.Phe1573LeufsTer5
XM_006721926.2:c.4781_4782insAA	XP_006721989.1:p.Phe1594LeufsTer5
XM_006721927.1:c.4781_4782insAA	XP_006721990.1:p.Phe1594LeufsTer5
XM_006721928.2:c.4781_4782insAA	XP_006721991.1:p.Phe1594LeufsTer5
XM_011524852.1:c.4778_4779insAA	XP_011523154.1:p.Phe1593LeufsTer5
XM_011524853.1:c.4742_4743insAA	XP_011523155.1:p.Phe1581LeufsTer5
XM_011524854.1:c.4742_4743insAA	XP_011523156.1:p.Phe1581LeufsTer5
XM_011524855.1:c.4742_4743insAA	XP_011523157.1:p.Phe1581LeufsTer5
XM_011524856.1:c.4742_4743insAA	XP_011523158.1:p.Phe1581LeufsTer5
XM_011524857.1:c.4781_4782insAA	XP_011523159.1:p.Phe1594LeufsTer5
NM_001042492.3:c.4751_4752insAA MANE Select	NP_001035957.1:p.Phe1584LeufsTer5