Canonical Allele Identifier: CA2697559561

Gene: NF1

Linked Data

• ClinVar Variation Id: 2745049
• ClinVar RCV Id: RCV003495019

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330494dup , CM000679.2:g.31330494dup	GRCh38
NC_000017.10:g.29657512dup , CM000679.1:g.29657512dup	GRCh37
NC_000017.9:g.26681638dup	NCBI36
NG_009018.1:g.240518dup , LRG_214:g.240518dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1996dup	ENSP00000492721.2:n.1996dup
ENST00000696138.1:c.5790dup	ENSP00000512431.1:p.Ser1931IlefsTer2
ENST00000684826.1:c.372dup	ENSP00000509994.1:p.Ser125IlefsTer2
ENST00000687027.1:c.-37dup	ENSP00000508715.1:n.-37dup
ENST00000687863.1:n.2453dup
ENST00000691014.1:c.5838dup	ENSP00000510595.1:p.Ser1947IlefsTer2
ENST00000693617.1:c.372dup	ENSP00000510031.1:p.Ser125IlefsTer2
ENST00000358273.9:c.5808dup MANE Select	ENSP00000351015.4:p.Ser1937IlefsTer2
ENST00000356175.7:c.5745dup	ENSP00000348498.3:p.Ser1916IlefsTer2
ENST00000358273.8:c.5808dup	ENSP00000351015.4:p.Ser1937IlefsTer2
ENST00000456735.6:c.4743dup	ENSP00000389907.2:p.Ser1582IlefsTer2
ENST00000479536.2:c.166dup
ENST00000493220.5:n.4281dup
ENST00000579081.5:c.5944dup	ENSP00000462408.1:n.5944dup
ENST00000581113.6:n.1125dup
NM_000267.3:c.5745dup , LRG_214t1:c.5745dup	NP_000258.1:p.Ser1916IlefsTer2
NM_001042492.2:c.5808dup , LRG_214t2:c.5808dup	NP_001035957.1:p.Ser1937IlefsTer2
XM_005257983.1:c.5808dup	XP_005258040.1:p.Ser1937IlefsTer2
XM_005257984.1:c.5745dup	XP_005258041.1:p.Ser1916IlefsTer2
XM_006721922.1:c.5838dup	XP_006721985.1:p.Ser1947IlefsTer2
XM_006721923.2:c.5799dup	XP_006721986.1:p.Ser1934IlefsTer2
XM_006721924.1:c.5838dup	XP_006721987.1:p.Ser1947IlefsTer2
XM_006721925.1:c.5775dup	XP_006721988.1:p.Ser1926IlefsTer2
XM_006721926.2:c.5838dup	XP_006721989.1:p.Ser1947IlefsTer2
XM_006721927.1:c.5838dup	XP_006721990.1:p.Ser1947IlefsTer2
XM_011524852.1:c.5835dup	XP_011523154.1:p.Ser1946IlefsTer2
XM_011524853.1:c.5799dup	XP_011523155.1:p.Ser1934IlefsTer2
XM_011524854.1:c.5799dup	XP_011523156.1:p.Ser1934IlefsTer2
XM_011524855.1:c.5799dup	XP_011523157.1:p.Ser1934IlefsTer2
XM_011524856.1:c.5799dup	XP_011523158.1:p.Ser1934IlefsTer2
XM_011524857.1:c.5838dup	XP_011523159.1:p.Ser1947IlefsTer2
NM_001042492.3:c.5808dup MANE Select	NP_001035957.1:p.Ser1937IlefsTer2