Canonical Allele Identifier: CA16615571
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404560
ClinVar RCV Id: RCV000457531
dbSNP Id: rs1060500347

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31206372del , CM000679.2:g.31206372del GRCh38
NC_000017.10:g.29533390del , CM000679.1:g.29533390del GRCh37
NC_000017.9:g.26557516del NCBI36
NG_009018.1:g.116396del , LRG_214:g.116396del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.1392+1del
ENST00000686189.1:c.837+1del
ENST00000691014.1:c.1422+1del
ENST00000358273.9:c.1392+1del
ENST00000356175.7:c.1392+1del
ENST00000358273.8:c.1392+1del
ENST00000431387.8:c.1392+1del
ENST00000456735.6:c.390+1del
ENST00000487476.5:n.1775+1del
ENST00000495910.6:c.1167+1del
ENST00000579081.5:c.1494+1del
NM_000267.3:c.1392+1del , LRG_214t1:c.1392+1del
NM_001042492.2:c.1392+1del , LRG_214t2:c.1392+1del
NM_001128147.2:c.1392+1del
XM_005257983.1:c.1392+1del
XM_005257984.1:c.1392+1del
XM_006721922.1:c.1422+1del
XM_006721923.2:c.1383+1del
XM_006721924.1:c.1422+1del
XM_006721925.1:c.1422+1del
XM_006721926.2:c.1422+1del
XM_006721927.1:c.1422+1del
XM_006721928.2:c.1422+1del
XM_011524852.1:c.1422+1del
XM_011524853.1:c.1383+1del
XM_011524854.1:c.1383+1del
XM_011524855.1:c.1383+1del
XM_011524856.1:c.1383+1del
XM_011524857.1:c.1422+1del
NM_001042492.3:c.1392+1del
NM_001128147.3:c.1392+1del