Canonical Allele Identifier: CA2697559767

Gene: NF1

Linked Data

• ClinVar Variation Id: 2765821
• ClinVar RCV Id: RCV003496624

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31248973_31248987del , CM000679.2:g.31248973_31248987del	GRCh38
NC_000017.10:g.29575991_29576005del , CM000679.1:g.29575991_29576005del	GRCh37
NC_000017.9:g.26600117_26600131del	NCBI36
NG_009018.1:g.158997_159011del , LRG_214:g.158997_159011del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4020-11_4023del
ENST00000696139.1:c.1438-11_1441del
ENST00000696140.1:n.81-11_84del
ENST00000687863.1:n.683-11_686del
ENST00000691014.1:c.4005-11_4008del
ENST00000358273.9:c.3975-11_3978del
ENST00000356175.7:c.3975-11_3978del
ENST00000358273.8:c.3975-11_3978del
ENST00000456735.6:c.2973-11_2976del
ENST00000466819.5:c.451-11_454del
ENST00000479614.1:c.451-11_454del
ENST00000493220.5:n.2511-11_2514del
ENST00000495910.6:c.3750-11_3753del
ENST00000579081.5:c.4077-11_4080del
NM_000267.3:c.3975-11_3978del , LRG_214t1:c.3975-11_3978del
NM_001042492.2:c.3975-11_3978del , LRG_214t2:c.3975-11_3978del
XM_005257983.1:c.3975-11_3978del
XM_005257984.1:c.3975-11_3978del
XM_006721922.1:c.4005-11_4008del
XM_006721923.2:c.3966-11_3969del
XM_006721924.1:c.4005-11_4008del
XM_006721925.1:c.4005-11_4008del
XM_006721926.2:c.4005-11_4008del
XM_006721927.1:c.4005-11_4008del
XM_006721928.2:c.4005-11_4008del
XM_011524852.1:c.4002-11_4005del
XM_011524853.1:c.3966-11_3969del
XM_011524854.1:c.3966-11_3969del
XM_011524855.1:c.3966-11_3969del
XM_011524856.1:c.3966-11_3969del
XM_011524857.1:c.4005-11_4008del
NM_001042492.3:c.3975-11_3978del