Canonical Allele Identifier: CA2573153304

Gene: NF1

Linked Data

• ClinVar Variation Id: 1353712
• ClinVar RCV Id: RCV001887636
• dbSNP Id: rs2151451269

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31248982_31249027dup , CM000679.2:g.31248982_31249027dup	GRCh38
NC_000017.10:g.29576000_29576045dup , CM000679.1:g.29576000_29576045dup	GRCh37
NC_000017.9:g.26600126_26600171dup	NCBI36
NG_009018.1:g.159006_159051dup , LRG_214:g.159006_159051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4020-2_4063dup
ENST00000696139.1:c.1438-2_1481dup
ENST00000696140.1:n.81-2_124dup
ENST00000687863.1:n.683-2_726dup
ENST00000691014.1:c.4005-2_4048dup
ENST00000358273.9:c.3975-2_4018dup
ENST00000356175.7:c.3975-2_4018dup
ENST00000358273.8:c.3975-2_4018dup
ENST00000456735.6:c.2973-2_3016dup
ENST00000466819.5:c.451-2_494dup
ENST00000479614.1:c.451-2_494dup
ENST00000493220.5:n.2511-2_2554dup
ENST00000495910.6:c.3750-2_3793dup
ENST00000579081.5:c.4077-2_4120dup
NM_000267.3:c.3975-2_4018dup , LRG_214t1:c.3975-2_4018dup
NM_001042492.2:c.3975-2_4018dup , LRG_214t2:c.3975-2_4018dup
XM_005257983.1:c.3975-2_4018dup
XM_005257984.1:c.3975-2_4018dup
XM_006721922.1:c.4005-2_4048dup
XM_006721923.2:c.3966-2_4009dup
XM_006721924.1:c.4005-2_4048dup
XM_006721925.1:c.4005-2_4048dup
XM_006721926.2:c.4005-2_4048dup
XM_006721927.1:c.4005-2_4048dup
XM_006721928.2:c.4005-2_4048dup
XM_011524852.1:c.4002-2_4045dup
XM_011524853.1:c.3966-2_4009dup
XM_011524854.1:c.3966-2_4009dup
XM_011524855.1:c.3966-2_4009dup
XM_011524856.1:c.3966-2_4009dup
XM_011524857.1:c.4005-2_4048dup
NM_001042492.3:c.3975-2_4018dup