Canonical Allele Identifier: CA658824756

Gene: NF1

Linked Data

• ClinVar Variation Id: 547632
• ClinVar RCV Id: RCV000660041
• dbSNP Id: rs1555615077
• MyVariant Identifiers: chr17:g.29560179_29560181del (hg19) ; chr17:g.31233161_31233163del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233161_31233163del , CM000679.2:g.31233161_31233163del	GRCh38
NC_000017.10:g.29560179_29560181del , CM000679.1:g.29560179_29560181del	GRCh37
NC_000017.9:g.26584305_26584307del	NCBI36
NG_009018.1:g.143185_143187del , LRG_214:g.143185_143187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3701_3703del	ENSP00000512431.1:p.Gly1234del
ENST00000696139.1:c.1001_1003del	ENSP00000512432.1:p.Gly334del
ENST00000691014.1:c.3686_3688del	ENSP00000510595.1:p.Gly1229del
ENST00000693210.1:n.382_384del
ENST00000358273.9:c.3656_3658del MANE Select	ENSP00000351015.4:p.Gly1219del
ENST00000356175.7:c.3656_3658del	ENSP00000348498.3:p.Gly1219del
ENST00000358273.8:c.3656_3658del	ENSP00000351015.4:p.Gly1219del
ENST00000456735.6:c.2654_2656del	ENSP00000389907.2:p.Gly885del
ENST00000466819.5:c.132_134del
ENST00000479614.1:c.132_134del
ENST00000493220.5:n.2192_2194del
ENST00000495910.6:c.3431_3433del
ENST00000579081.5:c.3758_3760del	ENSP00000462408.1:p.Gly1253del
NM_000267.3:c.3656_3658del , LRG_214t1:c.3656_3658del	NP_000258.1:p.Gly1219del
NM_001042492.2:c.3656_3658del , LRG_214t2:c.3656_3658del	NP_001035957.1:p.Gly1219del
XM_005257983.1:c.3656_3658del	XP_005258040.1:p.Gly1219del
XM_005257984.1:c.3656_3658del	XP_005258041.1:p.Gly1219del
XM_006721922.1:c.3686_3688del	XP_006721985.1:p.Gly1229del
XM_006721923.2:c.3647_3649del	XP_006721986.1:p.Gly1216del
XM_006721924.1:c.3686_3688del	XP_006721987.1:p.Gly1229del
XM_006721925.1:c.3686_3688del	XP_006721988.1:p.Gly1229del
XM_006721926.2:c.3686_3688del	XP_006721989.1:p.Gly1229del
XM_006721927.1:c.3686_3688del	XP_006721990.1:p.Gly1229del
XM_006721928.2:c.3686_3688del	XP_006721991.1:p.Gly1229del
XM_011524852.1:c.3683_3685del	XP_011523154.1:p.Gly1228del
XM_011524853.1:c.3647_3649del	XP_011523155.1:p.Gly1216del
XM_011524854.1:c.3647_3649del	XP_011523156.1:p.Gly1216del
XM_011524855.1:c.3647_3649del	XP_011523157.1:p.Gly1216del
XM_011524856.1:c.3647_3649del	XP_011523158.1:p.Gly1216del
XM_011524857.1:c.3686_3688del	XP_011523159.1:p.Gly1229del
NM_001042492.3:c.3656_3658del MANE Select	NP_001035957.1:p.Gly1219del