Canonical Allele Identifier: CA2580093143

Gene: NF1

Linked Data

• ClinVar Variation Id: 2452245
• ClinVar RCV Id: RCV003172339

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338126_31338144del , CM000679.2:g.31338126_31338144del	GRCh38
NC_000017.10:g.29665144_29665162del , CM000679.1:g.29665144_29665162del	GRCh37
NC_000017.9:g.26689270_26689288del	NCBI36
NG_009018.1:g.248150_248168del , LRG_214:g.248150_248168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6788_6801+5del
ENST00000684826.1:c.1370_1383+5del
ENST00000684998.1:n.2064_2082del
ENST00000687027.1:c.962_975+5del
ENST00000687863.1:n.3451_3464+5del
ENST00000691014.1:c.6836_6849+5del
ENST00000693617.1:c.1370_1383+5del
ENST00000358273.9:c.6806_6819+5del
ENST00000356175.7:c.6743_6756+5del
ENST00000358273.8:c.6806_6819+5del
ENST00000456735.6:c.5741_5754+5del
ENST00000471572.6:c.189_202+5del
ENST00000579081.5:c.6942_6955+5del
ENST00000581790.5:c.64+246_64+264del
ENST00000584328.1:n.220_233+5del
NM_000267.3:c.6743_6756+5del , LRG_214t1:c.6743_6756+5del
NM_001042492.2:c.6806_6819+5del , LRG_214t2:c.6806_6819+5del
XM_005257983.1:c.6806_6819+5del
XM_005257984.1:c.6743_6756+5del
XM_006721922.1:c.6836_6849+5del
XM_006721923.2:c.6797_6810+5del
XM_006721924.1:c.6836_6849+5del
XM_006721925.1:c.6773_6786+5del
XM_006721926.2:c.6836_6849+5del
XM_006721927.1:c.6836_6849+5del
XM_011524852.1:c.6833_6846+5del
XM_011524853.1:c.6797_6810+5del
XM_011524854.1:c.6797_6810+5del
XM_011524855.1:c.6797_6810+5del
XM_011524856.1:c.6797_6810+5del
XM_011524857.1:c.6836_6849+5del
NM_001042492.3:c.6806_6819+5del