Canonical Allele Identifier: CA2255559557

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31221921_31221934delinsGGAGATTAGGTATA , CM000679.2:g.31221921_31221934delinsGGAGATTAGGTATA	GRCh38
NC_000017.10:g.29548939_29548952delinsGGAGATTAGGTATA , CM000679.1:g.29548939_29548952delinsGGAGATTAGGTATA	GRCh37
NC_000017.9:g.26573065_26573078delinsGGAGATTAGGTATA	NCBI36
NG_009018.1:g.131945_131958delinsGGAGATTAGGTATA , LRG_214:g.131945_131958delinsGGAGATTAGGTATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1758_1766+5delinsGGAGATTAGGTATA
ENST00000686189.1:c.1158_1171delinsGGAGATTAGGTATA	ENSP00000509682.1:p.Trp386=
ENST00000691014.1:c.1743_1751+5delinsGGAGATTAGGTATA
ENST00000358273.9:c.1713_1721+5delinsGGAGATTAGGTATA
ENST00000356175.7:c.1713_1721+5delinsGGAGATTAGGTATA
ENST00000358273.8:c.1713_1721+5delinsGGAGATTAGGTATA
ENST00000431387.8:c.1713_1726delinsGGAGATTAGGTATA	ENSP00000412921.4:p.Trp571=
ENST00000456735.6:c.711_719+5delinsGGAGATTAGGTATA
ENST00000495910.6:c.1488_1496+5delinsGGAGATTAGGTATA
ENST00000579081.5:c.1815_1823+5delinsGGAGATTAGGTATA
NM_000267.3:c.1713_1721+5delinsGGAGATTAGGTATA , LRG_214t1:c.1713_1721+5delinsGGAGATTAGGTATA
NM_001042492.2:c.1713_1721+5delinsGGAGATTAGGTATA , LRG_214t2:c.1713_1721+5delinsGGAGATTAGGTATA
NM_001128147.2:c.1713_1726delinsGGAGATTAGGTATA	NP_001121619.1:p.Trp571=
XM_005257983.1:c.1713_1721+5delinsGGAGATTAGGTATA
XM_005257984.1:c.1713_1721+5delinsGGAGATTAGGTATA
XM_006721922.1:c.1743_1751+5delinsGGAGATTAGGTATA
XM_006721923.2:c.1704_1712+5delinsGGAGATTAGGTATA
XM_006721924.1:c.1743_1751+5delinsGGAGATTAGGTATA
XM_006721925.1:c.1743_1751+5delinsGGAGATTAGGTATA
XM_006721926.2:c.1743_1751+5delinsGGAGATTAGGTATA
XM_006721927.1:c.1743_1751+5delinsGGAGATTAGGTATA
XM_006721928.2:c.1743_1751+5delinsGGAGATTAGGTATA
XM_011524852.1:c.1743_1751+5delinsGGAGATTAGGTATA
XM_011524853.1:c.1704_1712+5delinsGGAGATTAGGTATA
XM_011524854.1:c.1704_1712+5delinsGGAGATTAGGTATA
XM_011524855.1:c.1704_1712+5delinsGGAGATTAGGTATA
XM_011524856.1:c.1704_1712+5delinsGGAGATTAGGTATA
XM_011524857.1:c.1743_1751+5delinsGGAGATTAGGTATA
NM_001042492.3:c.1713_1721+5delinsGGAGATTAGGTATA
NM_001128147.3:c.1713_1726delinsGGAGATTAGGTATA	NP_001121619.1:p.Trp571=