Canonical Allele Identifier: CA2573153902

Gene: NF1

Linked Data

• ClinVar Variation Id: 1410582
• ClinVar RCV Id: RCV001940126
• dbSNP Id: rs2151564965

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7054del	ENSP00000512431.1:p.Glu2352LysfsTer?
ENST00000684826.1:c.1636del	ENSP00000509994.1:p.Glu546LysfsTer?
ENST00000687027.1:c.1228del	ENSP00000508715.1:p.Glu410LysfsTer?
ENST00000687863.1:n.3717del
ENST00000689464.1:c.11del
ENST00000691014.1:c.7102del	ENSP00000510595.1:p.Glu2368LysfsTer?
ENST00000693617.1:c.1636del	ENSP00000510031.1:p.Glu546LysfsTer?
ENST00000358273.9:c.7072del MANE Select	ENSP00000351015.4:p.Glu2358LysfsTer?
ENST00000356175.7:c.7009del	ENSP00000348498.3:p.Glu2337LysfsTer?
ENST00000358273.8:c.7072del	ENSP00000351015.4:p.Glu2358LysfsTer?
ENST00000456735.6:c.6007del	ENSP00000389907.2:p.Glu2003LysfsTer?
ENST00000471572.6:c.455del
ENST00000579081.5:c.7208del	ENSP00000462408.1:n.7208del
ENST00000581790.5:c.215del
ENST00000582892.1:n.314del
ENST00000584328.1:n.486del
NM_000267.3:c.7009del , LRG_214t1:c.7009del	NP_000258.1:p.Glu2337LysfsTer?
NM_001042492.2:c.7072del , LRG_214t2:c.7072del	NP_001035957.1:p.Glu2358LysfsTer?
XM_005257983.1:c.7072del	XP_005258040.1:p.Glu2358LysfsTer?
XM_005257984.1:c.7009del	XP_005258041.1:p.Glu2337LysfsTer?
XM_006721922.1:c.7102del	XP_006721985.1:p.Glu2368LysfsTer?
XM_006721923.2:c.7063del	XP_006721986.1:p.Glu2355LysfsTer?
XM_006721924.1:c.7102del	XP_006721987.1:p.Glu2368LysfsTer?
XM_006721925.1:c.7039del	XP_006721988.1:p.Glu2347LysfsTer?
XM_006721926.2:c.7102del	XP_006721989.1:p.Glu2368LysfsTer?
XM_006721927.1:c.7102del	XP_006721990.1:p.Glu2368LysfsTer?
XM_011524852.1:c.7099del	XP_011523154.1:p.Glu2367LysfsTer?
XM_011524853.1:c.7063del	XP_011523155.1:p.Glu2355LysfsTer?
XM_011524854.1:c.7063del	XP_011523156.1:p.Glu2355LysfsTer?
XM_011524855.1:c.7063del	XP_011523157.1:p.Glu2355LysfsTer?
XM_011524856.1:c.7063del	XP_011523158.1:p.Glu2355LysfsTer?
XM_011524857.1:c.7102del	XP_011523159.1:p.Glu2368LysfsTer?
NM_001042492.3:c.7072del MANE Select	NP_001035957.1:p.Glu2358LysfsTer?