Canonical Allele Identifier: CA2255550814
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31201472_31201507delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA , CM000679.2:g.31201472_31201507delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA GRCh38
NC_000017.10:g.29528490_29528525delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA , CM000679.1:g.29528490_29528525delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA GRCh37
NC_000017.9:g.26552616_26552651delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA NCBI36
NG_009018.1:g.111496_111531delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA , LRG_214:g.111496_111531delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000686189.1:c.662_675+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000688507.1:n.953_988delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000691014.1:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000692326.1:n.1530_1565delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000358273.9:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000356175.7:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000358273.8:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000431387.8:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000456735.6:c.245_258+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000487476.5:n.1630_1643+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000495910.6:c.1022_1035+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
ENST00000579081.5:c.1349_1362+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
NM_000267.3:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA , LRG_214t1:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
NM_001042492.2:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA , LRG_214t2:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
NM_001128147.2:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_005257983.1:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_005257984.1:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_006721922.1:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_006721923.2:c.1208_1221+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_006721924.1:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_006721925.1:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_006721926.2:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_006721927.1:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_006721928.2:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_011524852.1:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_011524853.1:c.1208_1221+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_011524854.1:c.1208_1221+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_011524855.1:c.1208_1221+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_011524856.1:c.1208_1221+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
XM_011524857.1:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
NM_001042492.3:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA
NM_001128147.3:c.1247_1260+22delinsGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTA