Canonical Allele Identifier: CA16620371
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422898
ClinVar RCV Id: RCV000478214
dbSNP Id: rs1064796077

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31335031_31335032delinsAA , CM000679.2:g.31335031_31335032delinsAA GRCh38
NC_000017.10:g.29662049_29662050delinsAA , CM000679.1:g.29662049_29662050delinsAA GRCh37
NC_000017.9:g.26686175_26686176delinsAA NCBI36
NG_009018.1:g.245055_245056delinsAA , LRG_214:g.245055_245056delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.2194_2194+1delinsAA
ENST00000696138.1:c.5988_5988+1delinsAA
ENST00000684826.1:c.570_570+1delinsAA
ENST00000687027.1:c.162_162+1delinsAA
ENST00000687863.1:n.2651_2651+1delinsAA
ENST00000691014.1:c.6036_6036+1delinsAA
ENST00000693617.1:c.570_570+1delinsAA
ENST00000358273.9:c.6006_6006+1delinsAA
ENST00000356175.7:c.5943_5943+1delinsAA
ENST00000358273.8:c.6006_6006+1delinsAA
ENST00000456735.6:c.4941_4941+1delinsAA
ENST00000479536.2:c.431_431+1delinsAA
ENST00000579081.5:c.6142_6142+1delinsAA
ENST00000581113.6:n.1323_1323+1delinsAA
NM_000267.3:c.5943_5943+1delinsAA , LRG_214t1:c.5943_5943+1delinsAA
NM_001042492.2:c.6006_6006+1delinsAA , LRG_214t2:c.6006_6006+1delinsAA
XM_005257983.1:c.6006_6006+1delinsAA
XM_005257984.1:c.5943_5943+1delinsAA
XM_006721922.1:c.6036_6036+1delinsAA
XM_006721923.2:c.5997_5997+1delinsAA
XM_006721924.1:c.6036_6036+1delinsAA
XM_006721925.1:c.5973_5973+1delinsAA
XM_006721926.2:c.6036_6036+1delinsAA
XM_006721927.1:c.6036_6036+1delinsAA
XM_011524852.1:c.6033_6033+1delinsAA
XM_011524853.1:c.5997_5997+1delinsAA
XM_011524854.1:c.5997_5997+1delinsAA
XM_011524855.1:c.5997_5997+1delinsAA
XM_011524856.1:c.5997_5997+1delinsAA
XM_011524857.1:c.6036_6036+1delinsAA
NM_001042492.3:c.6006_6006+1delinsAA