Canonical Allele Identifier: CA2580092858

Gene: NF1

Linked Data

• ClinVar Variation Id: 1738260
• ClinVar RCV Id: RCV002333239

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258383_31258412dup , CM000679.2:g.31258383_31258412dup	GRCh38
NC_000017.10:g.29585401_29585430dup , CM000679.1:g.29585401_29585430dup	GRCh37
NC_000017.9:g.26609527_26609556dup	NCBI36
NG_009018.1:g.168407_168436dup , LRG_214:g.168407_168436dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1_30dup	ENSP00000492721.2:p.Ile10_Asn11insValGlySerAlaMetPheLeuArgPhe...
ENST00000696138.1:c.4195_4224dup	ENSP00000512431.1:p.Ile1408_Asn1409insValGlySerAlaMetPheLeuAr...
ENST00000696140.1:n.319_348dup
ENST00000696141.1:c.204_233dup
ENST00000687863.1:n.858_887dup
ENST00000691014.1:c.4243_4272dup	ENSP00000510595.1:p.Ile1424_Asn1425insValGlySerAlaMetPheLeuAr...
ENST00000691649.1:n.185_214dup
ENST00000358273.9:c.4213_4242dup MANE Select	ENSP00000351015.4:p.Ile1414_Asn1415insValGlySerAlaMetPheLeuAr...
ENST00000356175.7:c.4150_4179dup	ENSP00000348498.3:p.Ile1393_Asn1394insValGlySerAlaMetPheLeuAr...
ENST00000358273.8:c.4213_4242dup	ENSP00000351015.4:p.Ile1414_Asn1415insValGlySerAlaMetPheLeuAr...
ENST00000456735.6:c.3148_3177dup	ENSP00000389907.2:p.Ile1059_Asn1060insValGlySerAlaMetPheLeuAr...
ENST00000466819.5:c.729_758dup
ENST00000479614.1:c.666_695dup
ENST00000493220.5:n.2686_2715dup
ENST00000579081.5:c.4252_4281dup	ENSP00000462408.1:p.Ile1427_Asn1428insValGlySerAlaMetPheLeuAr...
NM_000267.3:c.4150_4179dup , LRG_214t1:c.4150_4179dup	NP_000258.1:p.Ile1393_Asn1394insValGlySerAlaMetPheLeuArgPheIl...
NM_001042492.2:c.4213_4242dup , LRG_214t2:c.4213_4242dup	NP_001035957.1:p.Ile1414_Asn1415insValGlySerAlaMetPheLeuArgPh...
XM_005257983.1:c.4213_4242dup	XP_005258040.1:p.Ile1414_Asn1415insValGlySerAlaMetPheLeuArgPh...
XM_005257984.1:c.4150_4179dup	XP_005258041.1:p.Ile1393_Asn1394insValGlySerAlaMetPheLeuArgPh...
XM_006721922.1:c.4243_4272dup	XP_006721985.1:p.Ile1424_Asn1425insValGlySerAlaMetPheLeuArgPh...
XM_006721923.2:c.4204_4233dup	XP_006721986.1:p.Ile1411_Asn1412insValGlySerAlaMetPheLeuArgPh...
XM_006721924.1:c.4243_4272dup	XP_006721987.1:p.Ile1424_Asn1425insValGlySerAlaMetPheLeuArgPh...
XM_006721925.1:c.4180_4209dup	XP_006721988.1:p.Ile1403_Asn1404insValGlySerAlaMetPheLeuArgPh...
XM_006721926.2:c.4243_4272dup	XP_006721989.1:p.Ile1424_Asn1425insValGlySerAlaMetPheLeuArgPh...
XM_006721927.1:c.4243_4272dup	XP_006721990.1:p.Ile1424_Asn1425insValGlySerAlaMetPheLeuArgPh...
XM_006721928.2:c.4243_4272dup	XP_006721991.1:p.Ile1424_Asn1425insValGlySerAlaMetPheLeuArgPh...
XM_011524852.1:c.4240_4269dup	XP_011523154.1:p.Ile1423_Asn1424insValGlySerAlaMetPheLeuArgPh...
XM_011524853.1:c.4204_4233dup	XP_011523155.1:p.Ile1411_Asn1412insValGlySerAlaMetPheLeuArgPh...
XM_011524854.1:c.4204_4233dup	XP_011523156.1:p.Ile1411_Asn1412insValGlySerAlaMetPheLeuArgPh...
XM_011524855.1:c.4204_4233dup	XP_011523157.1:p.Ile1411_Asn1412insValGlySerAlaMetPheLeuArgPh...
XM_011524856.1:c.4204_4233dup	XP_011523158.1:p.Ile1411_Asn1412insValGlySerAlaMetPheLeuArgPh...
XM_011524857.1:c.4243_4272dup	XP_011523159.1:p.Ile1424_Asn1425insValGlySerAlaMetPheLeuArgPh...
NM_001042492.3:c.4213_4242dup MANE Select	NP_001035957.1:p.Ile1414_Asn1415insValGlySerAlaMetPheLeuArgPh...