Canonical Allele Identifier: CA398997833

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.31258403_31258416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258404_31258417del , CM000679.2:g.31258404_31258417del	GRCh38
NC_000017.10:g.29585422_29585435del , CM000679.1:g.29585422_29585435del	GRCh37
NC_000017.9:g.26609548_26609561del	NCBI36
NG_009018.1:g.168428_168441del , LRG_214:g.168428_168441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.22_35del	ENSP00000492721.2:p.Arg8CysfsTer7
ENST00000696138.1:c.4216_4229del	ENSP00000512431.1:p.Arg1406CysfsTer7
ENST00000696140.1:n.340_353del
ENST00000696141.1:c.225_238del
ENST00000687863.1:n.879_892del
ENST00000691014.1:c.4264_4277del	ENSP00000510595.1:p.Arg1422CysfsTer7
ENST00000691649.1:n.206_219del
ENST00000358273.9:c.4234_4247del MANE Select	ENSP00000351015.4:p.Arg1412CysfsTer7
ENST00000356175.7:c.4171_4184del	ENSP00000348498.3:p.Arg1391CysfsTer7
ENST00000358273.8:c.4234_4247del	ENSP00000351015.4:p.Arg1412CysfsTer7
ENST00000456735.6:c.3169_3182del	ENSP00000389907.2:p.Arg1057CysfsTer7
ENST00000466819.5:c.750_763del
ENST00000479614.1:c.687_700del
ENST00000493220.5:n.2707_2720del
ENST00000579081.5:c.4273_4286del	ENSP00000462408.1:p.Arg1425CysfsTer7
NM_000267.3:c.4171_4184del , LRG_214t1:c.4171_4184del	NP_000258.1:p.Arg1391CysfsTer7
NM_001042492.2:c.4234_4247del , LRG_214t2:c.4234_4247del	NP_001035957.1:p.Arg1412CysfsTer7
XM_005257983.1:c.4234_4247del	XP_005258040.1:p.Arg1412CysfsTer7
XM_005257984.1:c.4171_4184del	XP_005258041.1:p.Arg1391CysfsTer7
XM_006721922.1:c.4264_4277del	XP_006721985.1:p.Arg1422CysfsTer7
XM_006721923.2:c.4225_4238del	XP_006721986.1:p.Arg1409CysfsTer7
XM_006721924.1:c.4264_4277del	XP_006721987.1:p.Arg1422CysfsTer7
XM_006721925.1:c.4201_4214del	XP_006721988.1:p.Arg1401CysfsTer7
XM_006721926.2:c.4264_4277del	XP_006721989.1:p.Arg1422CysfsTer7
XM_006721927.1:c.4264_4277del	XP_006721990.1:p.Arg1422CysfsTer7
XM_006721928.2:c.4264_4277del	XP_006721991.1:p.Arg1422CysfsTer7
XM_011524852.1:c.4261_4274del	XP_011523154.1:p.Arg1421CysfsTer7
XM_011524853.1:c.4225_4238del	XP_011523155.1:p.Arg1409CysfsTer7
XM_011524854.1:c.4225_4238del	XP_011523156.1:p.Arg1409CysfsTer7
XM_011524855.1:c.4225_4238del	XP_011523157.1:p.Arg1409CysfsTer7
XM_011524856.1:c.4225_4238del	XP_011523158.1:p.Arg1409CysfsTer7
XM_011524857.1:c.4264_4277del	XP_011523159.1:p.Arg1422CysfsTer7
NM_001042492.3:c.4234_4247del MANE Select	NP_001035957.1:p.Arg1412CysfsTer7