Canonical Allele Identifier: CA2559048655

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338800_31338801del , CM000679.2:g.31338800_31338801del	GRCh38
NC_000017.10:g.29665818_29665819del , CM000679.1:g.29665818_29665819del	GRCh37
NC_000017.9:g.26689944_26689945del	NCBI36
NG_009018.1:g.248824_248825del , LRG_214:g.248824_248825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6898_6899del	ENSP00000512431.1:p.Asn2300Ter
ENST00000684826.1:c.1480_1481del	ENSP00000509994.1:p.Asn494Ter
ENST00000684998.1:n.2738_2739del
ENST00000687027.1:c.1072_1073del	ENSP00000508715.1:p.Asn358Ter
ENST00000687863.1:n.3561_3562del
ENST00000691014.1:c.6946_6947del	ENSP00000510595.1:p.Asn2316Ter
ENST00000693617.1:c.1480_1481del	ENSP00000510031.1:p.Asn494Ter
ENST00000358273.9:c.6916_6917del MANE Select	ENSP00000351015.4:p.Asn2306Ter
ENST00000356175.7:c.6853_6854del	ENSP00000348498.3:p.Asn2285Ter
ENST00000358273.8:c.6916_6917del	ENSP00000351015.4:p.Asn2306Ter
ENST00000456735.6:c.5851_5852del	ENSP00000389907.2:p.Asn1951Ter
ENST00000471572.6:c.299_300del
ENST00000579081.5:c.7052_7053del	ENSP00000462408.1:n.7052_7053del
ENST00000581790.5:c.64+920_64+921del
ENST00000584328.1:n.330_331del
NM_000267.3:c.6853_6854del , LRG_214t1:c.6853_6854del	NP_000258.1:p.Asn2285Ter
NM_001042492.2:c.6916_6917del , LRG_214t2:c.6916_6917del	NP_001035957.1:p.Asn2306Ter
XM_005257983.1:c.6916_6917del	XP_005258040.1:p.Asn2306Ter
XM_005257984.1:c.6853_6854del	XP_005258041.1:p.Asn2285Ter
XM_006721922.1:c.6946_6947del	XP_006721985.1:p.Asn2316Ter
XM_006721923.2:c.6907_6908del	XP_006721986.1:p.Asn2303Ter
XM_006721924.1:c.6946_6947del	XP_006721987.1:p.Asn2316Ter
XM_006721925.1:c.6883_6884del	XP_006721988.1:p.Asn2295Ter
XM_006721926.2:c.6946_6947del	XP_006721989.1:p.Asn2316Ter
XM_006721927.1:c.6946_6947del	XP_006721990.1:p.Asn2316Ter
XM_011524852.1:c.6943_6944del	XP_011523154.1:p.Asn2315Ter
XM_011524853.1:c.6907_6908del	XP_011523155.1:p.Asn2303Ter
XM_011524854.1:c.6907_6908del	XP_011523156.1:p.Asn2303Ter
XM_011524855.1:c.6907_6908del	XP_011523157.1:p.Asn2303Ter
XM_011524856.1:c.6907_6908del	XP_011523158.1:p.Asn2303Ter
XM_011524857.1:c.6946_6947del	XP_011523159.1:p.Asn2316Ter
NM_001042492.3:c.6916_6917del MANE Select	NP_001035957.1:p.Asn2306Ter