Canonical Allele Identifier: CA728030602
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs1253123816

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265295del , CM000679.2:g.31265295del GRCh38
NC_000017.10:g.29592313del , CM000679.1:g.29592313del GRCh37
NC_000017.9:g.26616439del NCBI36
NG_009018.1:g.175319del , LRG_214:g.175319del

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.593del ENSP00000492721.2:n.593del
ENST00000696138.1:c.4773del ENSP00000512431.1:p.Thr1592LeufsTer26
ENST00000696140.1:n.897del
ENST00000696141.1:c.782del
ENST00000687863.1:n.1436del
ENST00000691014.1:c.4821del ENSP00000510595.1:p.Thr1608LeufsTer26
ENST00000358273.9:c.4791del MANE Select ENSP00000351015.4:p.Thr1598LeufsTer26
ENST00000356175.7:c.4728del ENSP00000348498.3:p.Thr1577LeufsTer26
ENST00000358273.8:c.4791del ENSP00000351015.4:p.Thr1598LeufsTer26
ENST00000456735.6:c.3726del ENSP00000389907.2:p.Thr1243LeufsTer26
ENST00000493220.5:n.3264del
ENST00000579081.5:c.4830del ENSP00000462408.1:p.Thr1611LeufsTer22
NM_000267.3:c.4728del , LRG_214t1:c.4728del NP_000258.1:p.Thr1577LeufsTer26
NM_001042492.2:c.4791del , LRG_214t2:c.4791del NP_001035957.1:p.Thr1598LeufsTer26
XM_005257983.1:c.4791del XP_005258040.1:p.Thr1598LeufsTer26
XM_005257984.1:c.4728del XP_005258041.1:p.Thr1577LeufsTer26
XM_006721922.1:c.4821del XP_006721985.1:p.Thr1608LeufsTer26
XM_006721923.2:c.4782del XP_006721986.1:p.Thr1595LeufsTer26
XM_006721924.1:c.4821del XP_006721987.1:p.Thr1608LeufsTer26
XM_006721925.1:c.4758del XP_006721988.1:p.Thr1587LeufsTer26
XM_006721926.2:c.4821del XP_006721989.1:p.Thr1608LeufsTer26
XM_006721927.1:c.4821del XP_006721990.1:p.Thr1608LeufsTer26
XM_006721928.2:c.4821del XP_006721991.1:p.Thr1608LeufsTer?
XM_011524852.1:c.4818del XP_011523154.1:p.Thr1607LeufsTer26
XM_011524853.1:c.4782del XP_011523155.1:p.Thr1595LeufsTer26
XM_011524854.1:c.4782del XP_011523156.1:p.Thr1595LeufsTer26
XM_011524855.1:c.4782del XP_011523157.1:p.Thr1595LeufsTer26
XM_011524856.1:c.4782del XP_011523158.1:p.Thr1595LeufsTer26
XM_011524857.1:c.4821del XP_011523159.1:p.Thr1608LeufsTer26
NM_001042492.3:c.4791del MANE Select NP_001035957.1:p.Thr1598LeufsTer26