Canonical Allele Identifier: CA2497028850
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31221983del , CM000679.2:g.31221983del GRCh38
NC_000017.10:g.29549001del , CM000679.1:g.29549001del GRCh37
NC_000017.9:g.26573127del NCBI36
NG_009018.1:g.132007del , LRG_214:g.132007del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.1766+54del ENSP00000512431.1:n.1766+54del
ENST00000686189.1:c.1220del ENSP00000509682.1:p.Leu407CysfsTer8
ENST00000691014.1:c.1751+54del ENSP00000510595.1:n.1751+54del
ENST00000358273.9:c.1721+54del MANE Select ENSP00000351015.4:n.1721+54del
ENST00000356175.7:c.1721+54del ENSP00000348498.3:n.1721+54del
ENST00000358273.8:c.1721+54del ENSP00000351015.4:n.1721+54del
ENST00000431387.8:c.1775del ENSP00000412921.4:p.Leu592CysfsTer8
ENST00000456735.6:c.719+54del ENSP00000389907.2:n.719+54del
ENST00000495910.6:c.1496+54del
ENST00000579081.5:c.1823+54del ENSP00000462408.1:n.1823+54del
NM_000267.3:c.1721+54del , LRG_214t1:c.1721+54del NP_000258.1:n.1721+54del
NM_001042492.2:c.1721+54del , LRG_214t2:c.1721+54del NP_001035957.1:n.1721+54del
NM_001128147.2:c.1775del NP_001121619.1:p.Leu592CysfsTer8
XM_005257983.1:c.1721+54del XP_005258040.1:n.1721+54del
XM_005257984.1:c.1721+54del XP_005258041.1:n.1721+54del
XM_006721922.1:c.1751+54del XP_006721985.1:n.1751+54del
XM_006721923.2:c.1712+54del XP_006721986.1:n.1712+54del
XM_006721924.1:c.1751+54del XP_006721987.1:n.1751+54del
XM_006721925.1:c.1751+54del XP_006721988.1:n.1751+54del
XM_006721926.2:c.1751+54del XP_006721989.1:n.1751+54del
XM_006721927.1:c.1751+54del XP_006721990.1:n.1751+54del
XM_006721928.2:c.1751+54del XP_006721991.1:n.1751+54del
XM_011524852.1:c.1751+54del XP_011523154.1:n.1751+54del
XM_011524853.1:c.1712+54del XP_011523155.1:n.1712+54del
XM_011524854.1:c.1712+54del XP_011523156.1:n.1712+54del
XM_011524855.1:c.1712+54del XP_011523157.1:n.1712+54del
XM_011524856.1:c.1712+54del XP_011523158.1:n.1712+54del
XM_011524857.1:c.1751+54del XP_011523159.1:n.1751+54del
NM_001042492.3:c.1721+54del MANE Select NP_001035957.1:n.1721+54del
NM_001128147.3:c.1775del NP_001121619.1:p.Leu592CysfsTer8