Canonical Allele Identifier: CA915949962

Gene: NF1

Linked Data

• ClinVar Variation Id: 818187
• ClinVar RCV Id: RCV001009582
• dbSNP Id: rs1597845213

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338141_31338710del , CM000679.2:g.31338141_31338710del	GRCh38
NC_000017.10:g.29665159_29665728del , CM000679.1:g.29665159_29665728del	GRCh37
NC_000017.9:g.26689285_26689854del	NCBI36
NG_009018.1:g.248165_248734del , LRG_214:g.248165_248734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6801+2_6808del
ENST00000684826.1:c.1383+2_1390del
ENST00000684998.1:n.2079_2648del
ENST00000687027.1:c.975+2_982del
ENST00000687863.1:n.3464+2_3471del
ENST00000691014.1:c.6849+2_6856del
ENST00000693617.1:c.1383+2_1390del
ENST00000358273.9:c.6819+2_6826del
ENST00000356175.7:c.6756+2_6763del
ENST00000358273.8:c.6819+2_6826del
ENST00000456735.6:c.5754+2_5761del
ENST00000471572.6:c.202+2_209del
ENST00000579081.5:c.6955+2_6962del
ENST00000581790.5:c.64+261_64+830del
ENST00000584328.1:n.233+2_240del
NM_000267.3:c.6756+2_6763del , LRG_214t1:c.6756+2_6763del
NM_001042492.2:c.6819+2_6826del , LRG_214t2:c.6819+2_6826del
XM_005257983.1:c.6819+2_6826del
XM_005257984.1:c.6756+2_6763del
XM_006721922.1:c.6849+2_6856del
XM_006721923.2:c.6810+2_6817del
XM_006721924.1:c.6849+2_6856del
XM_006721925.1:c.6786+2_6793del
XM_006721926.2:c.6849+2_6856del
XM_006721927.1:c.6849+2_6856del
XM_011524852.1:c.6846+2_6853del
XM_011524853.1:c.6810+2_6817del
XM_011524854.1:c.6810+2_6817del
XM_011524855.1:c.6810+2_6817del
XM_011524856.1:c.6810+2_6817del
XM_011524857.1:c.6849+2_6856del
NM_001042492.3:c.6819+2_6826del