Canonical Allele Identifier: CA2695224744

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31201453_31201488del , CM000679.2:g.31201453_31201488del	GRCh38
NC_000017.10:g.29528471_29528506del , CM000679.1:g.29528471_29528506del	GRCh37
NC_000017.9:g.26552597_26552632del	NCBI36
NG_009018.1:g.111477_111512del , LRG_214:g.111477_111512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1228_1260+3del
ENST00000686189.1:c.643_675+3del
ENST00000688507.1:n.934_969del
ENST00000691014.1:c.1228_1260+3del
ENST00000692326.1:n.1511_1546del
ENST00000358273.9:c.1228_1260+3del
ENST00000356175.7:c.1228_1260+3del
ENST00000358273.8:c.1228_1260+3del
ENST00000431387.8:c.1228_1260+3del
ENST00000456735.6:c.226_258+3del
ENST00000487476.5:n.1611_1643+3del
ENST00000495910.6:c.1003_1035+3del
ENST00000579081.5:c.1330_1362+3del
NM_000267.3:c.1228_1260+3del , LRG_214t1:c.1228_1260+3del
NM_001042492.2:c.1228_1260+3del , LRG_214t2:c.1228_1260+3del
NM_001128147.2:c.1228_1260+3del
XM_005257983.1:c.1228_1260+3del
XM_005257984.1:c.1228_1260+3del
XM_006721922.1:c.1228_1260+3del
XM_006721923.2:c.1189_1221+3del
XM_006721924.1:c.1228_1260+3del
XM_006721925.1:c.1228_1260+3del
XM_006721926.2:c.1228_1260+3del
XM_006721927.1:c.1228_1260+3del
XM_006721928.2:c.1228_1260+3del
XM_011524852.1:c.1228_1260+3del
XM_011524853.1:c.1189_1221+3del
XM_011524854.1:c.1189_1221+3del
XM_011524855.1:c.1189_1221+3del
XM_011524856.1:c.1189_1221+3del
XM_011524857.1:c.1228_1260+3del
NM_001042492.3:c.1228_1260+3del
NM_001128147.3:c.1228_1260+3del