Canonical Allele Identifier: CA2695225409

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261810_31261811del , CM000679.2:g.31261810_31261811del	GRCh38
NC_000017.10:g.29588828_29588829del , CM000679.1:g.29588828_29588829del	GRCh37
NC_000017.9:g.26612954_26612955del	NCBI36
NG_009018.1:g.171834_171835del , LRG_214:g.171834_171835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.479_480del	ENSP00000492721.2:p.Gly160AlafsTer?
ENST00000696138.1:c.4659_4660del	ENSP00000512431.1:p.Trp1553CysfsTer4
ENST00000696140.1:n.783_784del
ENST00000696141.1:c.668_669del
ENST00000687863.1:n.1322_1323del
ENST00000691014.1:c.4707_4708del	ENSP00000510595.1:p.Trp1569CysfsTer4
ENST00000358273.9:c.4677_4678del MANE Select	ENSP00000351015.4:p.Trp1559CysfsTer4
ENST00000356175.7:c.4614_4615del	ENSP00000348498.3:p.Trp1538CysfsTer4
ENST00000358273.8:c.4677_4678del	ENSP00000351015.4:p.Trp1559CysfsTer4
ENST00000456735.6:c.3612_3613del	ENSP00000389907.2:p.Trp1204CysfsTer4
ENST00000493220.5:n.3150_3151del
ENST00000579081.5:c.4716_4717del	ENSP00000462408.1:p.Trp1572CysfsTer4
NM_000267.3:c.4614_4615del , LRG_214t1:c.4614_4615del	NP_000258.1:p.Trp1538CysfsTer4
NM_001042492.2:c.4677_4678del , LRG_214t2:c.4677_4678del	NP_001035957.1:p.Trp1559CysfsTer4
XM_005257983.1:c.4677_4678del	XP_005258040.1:p.Trp1559CysfsTer4
XM_005257984.1:c.4614_4615del	XP_005258041.1:p.Trp1538CysfsTer4
XM_006721922.1:c.4707_4708del	XP_006721985.1:p.Trp1569CysfsTer4
XM_006721923.2:c.4668_4669del	XP_006721986.1:p.Trp1556CysfsTer4
XM_006721924.1:c.4707_4708del	XP_006721987.1:p.Trp1569CysfsTer4
XM_006721925.1:c.4644_4645del	XP_006721988.1:p.Trp1548CysfsTer4
XM_006721926.2:c.4707_4708del	XP_006721989.1:p.Trp1569CysfsTer4
XM_006721927.1:c.4707_4708del	XP_006721990.1:p.Trp1569CysfsTer4
XM_006721928.2:c.4707_4708del	XP_006721991.1:p.Trp1569CysfsTer4
XM_011524852.1:c.4704_4705del	XP_011523154.1:p.Trp1568CysfsTer4
XM_011524853.1:c.4668_4669del	XP_011523155.1:p.Trp1556CysfsTer4
XM_011524854.1:c.4668_4669del	XP_011523156.1:p.Trp1556CysfsTer4
XM_011524855.1:c.4668_4669del	XP_011523157.1:p.Trp1556CysfsTer4
XM_011524856.1:c.4668_4669del	XP_011523158.1:p.Trp1556CysfsTer4
XM_011524857.1:c.4707_4708del	XP_011523159.1:p.Trp1569CysfsTer4
NM_001042492.3:c.4677_4678del MANE Select	NP_001035957.1:p.Trp1559CysfsTer4