Canonical Allele Identifier: CA2573153360

Gene: NF1

Linked Data

• ClinVar Variation Id: 1426369
• ClinVar RCV Id: RCV001929372
• dbSNP Id: rs2151435660

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233145del , CM000679.2:g.31233145del	GRCh38
NC_000017.10:g.29560163del , CM000679.1:g.29560163del	GRCh37
NC_000017.9:g.26584289del	NCBI36
NG_009018.1:g.143169del , LRG_214:g.143169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3685del	ENSP00000512431.1:p.Met1229Ter
ENST00000696139.1:c.985del	ENSP00000512432.1:p.Met329Ter
ENST00000691014.1:c.3670del	ENSP00000510595.1:p.Met1224Ter
ENST00000693210.1:n.366del
ENST00000358273.9:c.3640del MANE Select	ENSP00000351015.4:p.Met1214Ter
ENST00000356175.7:c.3640del	ENSP00000348498.3:p.Met1214Ter
ENST00000358273.8:c.3640del	ENSP00000351015.4:p.Met1214Ter
ENST00000456735.6:c.2638del	ENSP00000389907.2:p.Met880Ter
ENST00000466819.5:c.116del
ENST00000479614.1:c.116del
ENST00000493220.5:n.2176del
ENST00000495910.6:c.3415del
ENST00000579081.5:c.3742del	ENSP00000462408.1:p.Met1248Ter
NM_000267.3:c.3640del , LRG_214t1:c.3640del	NP_000258.1:p.Met1214Ter
NM_001042492.2:c.3640del , LRG_214t2:c.3640del	NP_001035957.1:p.Met1214Ter
XM_005257983.1:c.3640del	XP_005258040.1:p.Met1214Ter
XM_005257984.1:c.3640del	XP_005258041.1:p.Met1214Ter
XM_006721922.1:c.3670del	XP_006721985.1:p.Met1224Ter
XM_006721923.2:c.3631del	XP_006721986.1:p.Met1211Ter
XM_006721924.1:c.3670del	XP_006721987.1:p.Met1224Ter
XM_006721925.1:c.3670del	XP_006721988.1:p.Met1224Ter
XM_006721926.2:c.3670del	XP_006721989.1:p.Met1224Ter
XM_006721927.1:c.3670del	XP_006721990.1:p.Met1224Ter
XM_006721928.2:c.3670del	XP_006721991.1:p.Met1224Ter
XM_011524852.1:c.3667del	XP_011523154.1:p.Met1223Ter
XM_011524853.1:c.3631del	XP_011523155.1:p.Met1211Ter
XM_011524854.1:c.3631del	XP_011523156.1:p.Met1211Ter
XM_011524855.1:c.3631del	XP_011523157.1:p.Met1211Ter
XM_011524856.1:c.3631del	XP_011523158.1:p.Met1211Ter
XM_011524857.1:c.3670del	XP_011523159.1:p.Met1224Ter
NM_001042492.3:c.3640del MANE Select	NP_001035957.1:p.Met1214Ter