Canonical Allele Identifier: CA277536

Gene: NF1

Linked Data

• ClinVar Variation Id: 217091
• ClinVar RCV Id: RCV000200875
• dbSNP Id: rs1555534307
• MyVariant Identifiers: chr17:g.29661396_29662293del (hg19) ; chr17:g.31334378_31335275del (hg38)
• PubMed: PMID:26189818

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334378_31335275del , CM000679.2:g.31334378_31335275del	GRCh38
NC_000017.10:g.29661396_29662293del , CM000679.1:g.29661396_29662293del	GRCh37
NC_000017.9:g.26685522_26686419del	NCBI36
NG_009018.1:g.244402_245299del , LRG_214:g.244402_245299del

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.2001-460_2194+244del
ENST00000696138.1:c.5795-460_5988+244del
ENST00000684826.1:c.377-460_570+244del
ENST00000687027.1:c.-32-460_162+244del
ENST00000687863.1:n.2458-460_2651+244del
ENST00000691014.1:c.5843-460_6036+244del
ENST00000693617.1:c.377-460_570+244del
ENST00000358273.9:c.5813-460_6006+244del
ENST00000356175.7:c.5750-460_5943+244del
ENST00000358273.8:c.5813-460_6006+244del
ENST00000456735.6:c.4748-460_4941+244del
ENST00000479536.2:c.171-286_431+244del
ENST00000579081.5:c.5949-460_6142+244del
ENST00000581113.6:n.1130-460_1323+244del
NM_000267.3:c.5750-460_5943+244del , LRG_214t1:c.5750-460_5943+244del
NM_001042492.2:c.5813-460_6006+244del , LRG_214t2:c.5813-460_6006+244del
XM_005257983.1:c.5813-460_6006+244del
XM_005257984.1:c.5750-460_5943+244del
XM_006721922.1:c.5843-460_6036+244del
XM_006721923.2:c.5804-460_5997+244del
XM_006721924.1:c.5843-460_6036+244del
XM_006721925.1:c.5780-460_5973+244del
XM_006721926.2:c.5843-460_6036+244del
XM_006721927.1:c.5843-460_6036+244del
XM_011524852.1:c.5840-460_6033+244del
XM_011524853.1:c.5804-460_5997+244del
XM_011524854.1:c.5804-460_5997+244del
XM_011524855.1:c.5804-460_5997+244del
XM_011524856.1:c.5804-460_5997+244del
XM_011524857.1:c.5843-460_6036+244del
NM_001042492.3:c.5813-460_6006+244del