Canonical Allele Identifier: CA2695225163

Gene: NF1

Linked Data

• ClinVar Variation Id: 2736572
• ClinVar RCV Id: RCV003494744

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338033del , CM000679.2:g.31338033del	GRCh38
NC_000017.10:g.29665051del , CM000679.1:g.29665051del	GRCh37
NC_000017.9:g.26689177del	NCBI36
NG_009018.1:g.248057del , LRG_214:g.248057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6695del	ENSP00000512431.1:p.Phe2232SerfsTer27
ENST00000684826.1:c.1277del	ENSP00000509994.1:p.Phe426SerfsTer27
ENST00000684998.1:n.1971del
ENST00000687027.1:c.869del	ENSP00000508715.1:p.Phe290SerfsTer27
ENST00000687863.1:n.3358del
ENST00000691014.1:c.6743del	ENSP00000510595.1:p.Phe2248SerfsTer27
ENST00000693617.1:c.1277del	ENSP00000510031.1:p.Phe426SerfsTer27
ENST00000358273.9:c.6713del MANE Select	ENSP00000351015.4:p.Phe2238SerfsTer27
ENST00000356175.7:c.6650del	ENSP00000348498.3:p.Phe2217SerfsTer27
ENST00000358273.8:c.6713del	ENSP00000351015.4:p.Phe2238SerfsTer27
ENST00000456735.6:c.5648del	ENSP00000389907.2:p.Phe1883SerfsTer27
ENST00000471572.6:c.96del
ENST00000579081.5:c.6849del	ENSP00000462408.1:n.6849del
ENST00000581790.5:c.64+153del
ENST00000584328.1:n.127del
NM_000267.3:c.6650del , LRG_214t1:c.6650del	NP_000258.1:p.Phe2217SerfsTer27
NM_001042492.2:c.6713del , LRG_214t2:c.6713del	NP_001035957.1:p.Phe2238SerfsTer27
XM_005257983.1:c.6713del	XP_005258040.1:p.Phe2238SerfsTer27
XM_005257984.1:c.6650del	XP_005258041.1:p.Phe2217SerfsTer27
XM_006721922.1:c.6743del	XP_006721985.1:p.Phe2248SerfsTer27
XM_006721923.2:c.6704del	XP_006721986.1:p.Phe2235SerfsTer27
XM_006721924.1:c.6743del	XP_006721987.1:p.Phe2248SerfsTer27
XM_006721925.1:c.6680del	XP_006721988.1:p.Phe2227SerfsTer27
XM_006721926.2:c.6743del	XP_006721989.1:p.Phe2248SerfsTer27
XM_006721927.1:c.6743del	XP_006721990.1:p.Phe2248SerfsTer27
XM_011524852.1:c.6740del	XP_011523154.1:p.Phe2247SerfsTer27
XM_011524853.1:c.6704del	XP_011523155.1:p.Phe2235SerfsTer27
XM_011524854.1:c.6704del	XP_011523156.1:p.Phe2235SerfsTer27
XM_011524855.1:c.6704del	XP_011523157.1:p.Phe2235SerfsTer27
XM_011524856.1:c.6704del	XP_011523158.1:p.Phe2235SerfsTer27
XM_011524857.1:c.6743del	XP_011523159.1:p.Phe2248SerfsTer27
NM_001042492.3:c.6713del MANE Select	NP_001035957.1:p.Phe2238SerfsTer27