Canonical Allele Identifier: CA658761009

Gene: NF1

Linked Data

• ClinVar Variation Id: 1421501
• ClinVar RCV Id: RCV001943811
• dbSNP Id: rs1597851420
• PubMed: PMID:18546366

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343104dup , CM000679.2:g.31343104dup	GRCh38
NC_000017.10:g.29670122dup , CM000679.1:g.29670122dup	GRCh37
NC_000017.9:g.26694248dup	NCBI36
NG_009018.1:g.253128dup , LRG_214:g.253128dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7140dup	ENSP00000512431.1:p.Asn2381Ter
ENST00000684826.1:c.1722dup	ENSP00000509994.1:p.Asn575Ter
ENST00000687027.1:c.1314dup	ENSP00000508715.1:p.Asn439Ter
ENST00000687863.1:n.3803dup
ENST00000689464.1:c.97dup
ENST00000691014.1:c.7188dup	ENSP00000510595.1:p.Asn2397Ter
ENST00000693617.1:c.1722dup	ENSP00000510031.1:p.Asn575Ter
ENST00000358273.9:c.7158dup MANE Select	ENSP00000351015.4:p.Asn2387Ter
ENST00000356175.7:c.7095dup	ENSP00000348498.3:p.Asn2366Ter
ENST00000358273.8:c.7158dup	ENSP00000351015.4:p.Asn2387Ter
ENST00000456735.6:c.6093dup	ENSP00000389907.2:p.Asn2032Ter
ENST00000471572.6:c.541dup
ENST00000579081.5:c.7294dup	ENSP00000462408.1:n.7294dup
ENST00000581790.5:c.301dup
ENST00000582892.1:n.400dup
NM_000267.3:c.7095dup , LRG_214t1:c.7095dup	NP_000258.1:p.Asn2366Ter
NM_001042492.2:c.7158dup , LRG_214t2:c.7158dup	NP_001035957.1:p.Asn2387Ter
XM_005257983.1:c.7158dup	XP_005258040.1:p.Asn2387Ter
XM_005257984.1:c.7095dup	XP_005258041.1:p.Asn2366Ter
XM_006721922.1:c.7188dup	XP_006721985.1:p.Asn2397Ter
XM_006721923.2:c.7149dup	XP_006721986.1:p.Asn2384Ter
XM_006721924.1:c.7188dup	XP_006721987.1:p.Asn2397Ter
XM_006721925.1:c.7125dup	XP_006721988.1:p.Asn2376Ter
XM_006721926.2:c.7188dup	XP_006721989.1:p.Asn2397Ter
XM_006721927.1:c.7188dup	XP_006721990.1:p.Asn2397Ter
XM_011524852.1:c.7185dup	XP_011523154.1:p.Asn2396Ter
XM_011524853.1:c.7149dup	XP_011523155.1:p.Asn2384Ter
XM_011524854.1:c.7149dup	XP_011523156.1:p.Asn2384Ter
XM_011524855.1:c.7149dup	XP_011523157.1:p.Asn2384Ter
XM_011524856.1:c.7149dup	XP_011523158.1:p.Asn2384Ter
XM_011524857.1:c.7188dup	XP_011523159.1:p.Asn2397Ter
NM_001042492.3:c.7158dup MANE Select	NP_001035957.1:p.Asn2387Ter