Canonical Allele Identifier: CA499233046

Gene: NF1

Linked Data

• COSMIC: COSM220106
• MyVariant Identifiers: chr17:g.29576002del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31248984del , CM000679.2:g.31248984del	GRCh38
NC_000017.10:g.29576002del , CM000679.1:g.29576002del	GRCh37
NC_000017.9:g.26600128del	NCBI36
NG_009018.1:g.159008del , LRG_214:g.159008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4020del
ENST00000696139.1:c.1438del
ENST00000696140.1:n.81del
ENST00000687863.1:n.683del
ENST00000691014.1:c.4005del
ENST00000358273.9:c.3975del
ENST00000356175.7:c.3975del
ENST00000358273.8:c.3975del
ENST00000456735.6:c.2973del
ENST00000466819.5:c.451del
ENST00000479614.1:c.451del
ENST00000493220.5:n.2511del
ENST00000495910.6:c.3750del
ENST00000579081.5:c.4077del
NM_000267.3:c.3975del , LRG_214t1:c.3975del
NM_001042492.2:c.3975del , LRG_214t2:c.3975del
XM_005257983.1:c.3975del
XM_005257984.1:c.3975del
XM_006721922.1:c.4005del
XM_006721923.2:c.3966del
XM_006721924.1:c.4005del
XM_006721925.1:c.4005del
XM_006721926.2:c.4005del
XM_006721927.1:c.4005del
XM_006721928.2:c.4005del
XM_011524852.1:c.4002del
XM_011524853.1:c.3966del
XM_011524854.1:c.3966del
XM_011524855.1:c.3966del
XM_011524856.1:c.3966del
XM_011524857.1:c.4005del
NM_001042492.3:c.3975del