Canonical Allele Identifier: CA1139665318

Gene: NF1

Linked Data

• ClinVar Variation Id: 969133
• ClinVar RCV Id: RCV001244406
• dbSNP Id: rs2066528976

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31201476_31201510del , CM000679.2:g.31201476_31201510del	GRCh38
NC_000017.10:g.29528494_29528528del , CM000679.1:g.29528494_29528528del	GRCh37
NC_000017.9:g.26552620_26552654del	NCBI36
NG_009018.1:g.111500_111534del , LRG_214:g.111500_111534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1251_1260+25del
ENST00000686189.1:c.666_675+25del
ENST00000688507.1:n.957_991del
ENST00000691014.1:c.1251_1260+25del
ENST00000692326.1:n.1534_1568del
ENST00000358273.9:c.1251_1260+25del
ENST00000356175.7:c.1251_1260+25del
ENST00000358273.8:c.1251_1260+25del
ENST00000431387.8:c.1251_1260+25del
ENST00000456735.6:c.249_258+25del
ENST00000487476.5:n.1634_1643+25del
ENST00000495910.6:c.1026_1035+25del
ENST00000579081.5:c.1353_1362+25del
NM_000267.3:c.1251_1260+25del , LRG_214t1:c.1251_1260+25del
NM_001042492.2:c.1251_1260+25del , LRG_214t2:c.1251_1260+25del
NM_001128147.2:c.1251_1260+25del
XM_005257983.1:c.1251_1260+25del
XM_005257984.1:c.1251_1260+25del
XM_006721922.1:c.1251_1260+25del
XM_006721923.2:c.1212_1221+25del
XM_006721924.1:c.1251_1260+25del
XM_006721925.1:c.1251_1260+25del
XM_006721926.2:c.1251_1260+25del
XM_006721927.1:c.1251_1260+25del
XM_006721928.2:c.1251_1260+25del
XM_011524852.1:c.1251_1260+25del
XM_011524853.1:c.1212_1221+25del
XM_011524854.1:c.1212_1221+25del
XM_011524855.1:c.1212_1221+25del
XM_011524856.1:c.1212_1221+25del
XM_011524857.1:c.1251_1260+25del
NM_001042492.3:c.1251_1260+25del
NM_001128147.3:c.1251_1260+25del