Canonical Allele Identifier: CA2573153901

Gene: NF1

Linked Data

• ClinVar Variation Id: 1380850
• ClinVar RCV Id: RCV001895078
• dbSNP Id: rs2151564961

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343018_31343021del , CM000679.2:g.31343018_31343021del	GRCh38
NC_000017.10:g.29670036_29670039del , CM000679.1:g.29670036_29670039del	GRCh37
NC_000017.9:g.26694162_26694165del	NCBI36
NG_009018.1:g.253042_253045del , LRG_214:g.253042_253045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7054_7057del	ENSP00000512431.1:p.Glu2352TyrfsTer?
ENST00000684826.1:c.1636_1639del	ENSP00000509994.1:p.Glu546TyrfsTer?
ENST00000687027.1:c.1228_1231del	ENSP00000508715.1:p.Glu410TyrfsTer?
ENST00000687863.1:n.3717_3720del
ENST00000689464.1:c.11_14del
ENST00000691014.1:c.7102_7105del	ENSP00000510595.1:p.Glu2368TyrfsTer?
ENST00000693617.1:c.1636_1639del	ENSP00000510031.1:p.Glu546TyrfsTer?
ENST00000358273.9:c.7072_7075del MANE Select	ENSP00000351015.4:p.Glu2358TyrfsTer?
ENST00000356175.7:c.7009_7012del	ENSP00000348498.3:p.Glu2337TyrfsTer?
ENST00000358273.8:c.7072_7075del	ENSP00000351015.4:p.Glu2358TyrfsTer?
ENST00000456735.6:c.6007_6010del	ENSP00000389907.2:p.Glu2003TyrfsTer?
ENST00000471572.6:c.455_458del
ENST00000579081.5:c.7208_7211del	ENSP00000462408.1:n.7208_7211del
ENST00000581790.5:c.215_218del
ENST00000582892.1:n.314_317del
ENST00000584328.1:n.486_489del
NM_000267.3:c.7009_7012del , LRG_214t1:c.7009_7012del	NP_000258.1:p.Glu2337TyrfsTer?
NM_001042492.2:c.7072_7075del , LRG_214t2:c.7072_7075del	NP_001035957.1:p.Glu2358TyrfsTer?
XM_005257983.1:c.7072_7075del	XP_005258040.1:p.Glu2358TyrfsTer?
XM_005257984.1:c.7009_7012del	XP_005258041.1:p.Glu2337TyrfsTer?
XM_006721922.1:c.7102_7105del	XP_006721985.1:p.Glu2368TyrfsTer?
XM_006721923.2:c.7063_7066del	XP_006721986.1:p.Glu2355TyrfsTer?
XM_006721924.1:c.7102_7105del	XP_006721987.1:p.Glu2368TyrfsTer?
XM_006721925.1:c.7039_7042del	XP_006721988.1:p.Glu2347TyrfsTer?
XM_006721926.2:c.7102_7105del	XP_006721989.1:p.Glu2368TyrfsTer?
XM_006721927.1:c.7102_7105del	XP_006721990.1:p.Glu2368TyrfsTer?
XM_011524852.1:c.7099_7102del	XP_011523154.1:p.Glu2367TyrfsTer?
XM_011524853.1:c.7063_7066del	XP_011523155.1:p.Glu2355TyrfsTer?
XM_011524854.1:c.7063_7066del	XP_011523156.1:p.Glu2355TyrfsTer?
XM_011524855.1:c.7063_7066del	XP_011523157.1:p.Glu2355TyrfsTer?
XM_011524856.1:c.7063_7066del	XP_011523158.1:p.Glu2355TyrfsTer?
XM_011524857.1:c.7102_7105del	XP_011523159.1:p.Glu2368TyrfsTer?
NM_001042492.3:c.7072_7075del MANE Select	NP_001035957.1:p.Glu2358TyrfsTer?