Canonical Allele Identifier: CA2739267477

Gene: NF1

Linked Data

• ClinVar Variation Id: 2800248
• ClinVar RCV Id: RCV003598863

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330470_31330485dup , CM000679.2:g.31330470_31330485dup	GRCh38
NC_000017.10:g.29657488_29657503dup , CM000679.1:g.29657488_29657503dup	GRCh37
NC_000017.9:g.26681614_26681629dup	NCBI36
NG_009018.1:g.240494_240509dup , LRG_214:g.240494_240509dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1972_1987dup	ENSP00000492721.2:n.1972_1987dup
ENST00000696138.1:c.5766_5781dup	ENSP00000512431.1:p.Phe1928ArgfsTer7
ENST00000684826.1:c.348_363dup	ENSP00000509994.1:p.Phe122ArgfsTer7
ENST00000687027.1:c.-61_-46dup	ENSP00000508715.1:n.-61_-46dup
ENST00000687863.1:n.2429_2444dup
ENST00000691014.1:c.5814_5829dup	ENSP00000510595.1:p.Phe1944ArgfsTer7
ENST00000693617.1:c.348_363dup	ENSP00000510031.1:p.Phe122ArgfsTer7
ENST00000358273.9:c.5784_5799dup MANE Select	ENSP00000351015.4:p.Phe1934ArgfsTer7
ENST00000356175.7:c.5721_5736dup	ENSP00000348498.3:p.Phe1913ArgfsTer7
ENST00000358273.8:c.5784_5799dup	ENSP00000351015.4:p.Phe1934ArgfsTer7
ENST00000456735.6:c.4719_4734dup	ENSP00000389907.2:p.Phe1579ArgfsTer7
ENST00000479536.2:c.142_157dup
ENST00000493220.5:n.4257_4272dup
ENST00000579081.5:c.5920_5935dup	ENSP00000462408.1:n.5920_5935dup
ENST00000581113.6:n.1101_1116dup
NM_000267.3:c.5721_5736dup , LRG_214t1:c.5721_5736dup	NP_000258.1:p.Phe1913ArgfsTer7
NM_001042492.2:c.5784_5799dup , LRG_214t2:c.5784_5799dup	NP_001035957.1:p.Phe1934ArgfsTer7
XM_005257983.1:c.5784_5799dup	XP_005258040.1:p.Phe1934ArgfsTer7
XM_005257984.1:c.5721_5736dup	XP_005258041.1:p.Phe1913ArgfsTer7
XM_006721922.1:c.5814_5829dup	XP_006721985.1:p.Phe1944ArgfsTer7
XM_006721923.2:c.5775_5790dup	XP_006721986.1:p.Phe1931ArgfsTer7
XM_006721924.1:c.5814_5829dup	XP_006721987.1:p.Phe1944ArgfsTer7
XM_006721925.1:c.5751_5766dup	XP_006721988.1:p.Phe1923ArgfsTer7
XM_006721926.2:c.5814_5829dup	XP_006721989.1:p.Phe1944ArgfsTer7
XM_006721927.1:c.5814_5829dup	XP_006721990.1:p.Phe1944ArgfsTer7
XM_011524852.1:c.5811_5826dup	XP_011523154.1:p.Phe1943ArgfsTer7
XM_011524853.1:c.5775_5790dup	XP_011523155.1:p.Phe1931ArgfsTer7
XM_011524854.1:c.5775_5790dup	XP_011523156.1:p.Phe1931ArgfsTer7
XM_011524855.1:c.5775_5790dup	XP_011523157.1:p.Phe1931ArgfsTer7
XM_011524856.1:c.5775_5790dup	XP_011523158.1:p.Phe1931ArgfsTer7
XM_011524857.1:c.5814_5829dup	XP_011523159.1:p.Phe1944ArgfsTer7
NM_001042492.3:c.5784_5799dup MANE Select	NP_001035957.1:p.Phe1934ArgfsTer7