Canonical Allele Identifier: CA1139665374

Gene: NF1

Linked Data

• ClinVar Variation Id: 943771
• ClinVar RCV Id: RCV001214032
• dbSNP Id: rs2067689357

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261712del , CM000679.2:g.31261712del	GRCh38
NC_000017.10:g.29588730del , CM000679.1:g.29588730del	GRCh37
NC_000017.9:g.26612856del	NCBI36
NG_009018.1:g.171736del , LRG_214:g.171736del

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.381del	ENSP00000492721.2:p.Ile128SerfsTer2
ENST00000696138.1:c.4561del
ENST00000696140.1:n.685del
ENST00000696141.1:c.570del
ENST00000687863.1:n.1224del
ENST00000691014.1:c.4609del
ENST00000358273.9:c.4579del
ENST00000356175.7:c.4516del
ENST00000358273.8:c.4579del
ENST00000456735.6:c.3514del
ENST00000466819.5:c.1095del
ENST00000479614.1:c.1032del
ENST00000493220.5:n.3052del
ENST00000579081.5:c.4618del
NM_000267.3:c.4516del , LRG_214t1:c.4516del
NM_001042492.2:c.4579del , LRG_214t2:c.4579del
XM_005257983.1:c.4579del
XM_005257984.1:c.4516del
XM_006721922.1:c.4609del
XM_006721923.2:c.4570del
XM_006721924.1:c.4609del
XM_006721925.1:c.4546del
XM_006721926.2:c.4609del
XM_006721927.1:c.4609del
XM_006721928.2:c.4609del
XM_011524852.1:c.4606del
XM_011524853.1:c.4570del
XM_011524854.1:c.4570del
XM_011524855.1:c.4570del
XM_011524856.1:c.4570del
XM_011524857.1:c.4609del
NM_001042492.3:c.4579del