Canonical Allele Identifier: CA2739267392

Gene: NF1

Linked Data

• ClinVar Variation Id: 2818366
• ClinVar RCV Id: RCV003599134

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258344del , CM000679.2:g.31258344del	GRCh38
NC_000017.10:g.29585362del , CM000679.1:g.29585362del	GRCh37
NC_000017.9:g.26609488del	NCBI36
NG_009018.1:g.168368del , LRG_214:g.168368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4156del
ENST00000696140.1:n.280del
ENST00000696141.1:c.165del
ENST00000687863.1:n.819del
ENST00000691014.1:c.4204del
ENST00000691649.1:n.146del
ENST00000358273.9:c.4174del
ENST00000356175.7:c.4111del
ENST00000358273.8:c.4174del
ENST00000456735.6:c.3109del
ENST00000466819.5:c.690del
ENST00000479614.1:c.627del
ENST00000493220.5:n.2647del
ENST00000579081.5:c.4213del
NM_000267.3:c.4111del , LRG_214t1:c.4111del
NM_001042492.2:c.4174del , LRG_214t2:c.4174del
XM_005257983.1:c.4174del
XM_005257984.1:c.4111del
XM_006721922.1:c.4204del
XM_006721923.2:c.4165del
XM_006721924.1:c.4204del
XM_006721925.1:c.4141del
XM_006721926.2:c.4204del
XM_006721927.1:c.4204del
XM_006721928.2:c.4204del
XM_011524852.1:c.4201del
XM_011524853.1:c.4165del
XM_011524854.1:c.4165del
XM_011524855.1:c.4165del
XM_011524856.1:c.4165del
XM_011524857.1:c.4204del
NM_001042492.3:c.4174del