Canonical Allele Identifier: CA2733518252
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2143777131

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31181702del , CM000679.2:g.31181702del GRCh38
NC_000017.10:g.29508720del , CM000679.1:g.29508720del GRCh37
NC_000017.9:g.26532846del NCBI36
NG_009018.1:g.91726del , LRG_214:g.91726del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.655-8del ENSP00000512431.1:n.655-8del
ENST00000686189.1:c.70-8del ENSP00000509682.1:n.70-8del
ENST00000691014.1:c.655-8del ENSP00000510595.1:n.655-8del
ENST00000358273.9:c.655-8del MANE Select ENSP00000351015.4:n.655-8del
ENST00000490416.2:c.235-8del ENSP00000491431.1:n.235-8del
ENST00000356175.7:c.655-8del ENSP00000348498.3:n.655-8del
ENST00000358273.8:c.655-8del ENSP00000351015.4:n.655-8del
ENST00000431387.8:c.655-8del ENSP00000412921.4:n.655-8del
ENST00000487476.5:n.1038-8del
ENST00000490416.1:n.289-8del
ENST00000495910.6:c.430-8del
ENST00000579081.5:c.757-8del ENSP00000462408.1:n.757-8del
NM_000267.3:c.655-8del , LRG_214t1:c.655-8del NP_000258.1:n.655-8del
NM_001042492.2:c.655-8del , LRG_214t2:c.655-8del NP_001035957.1:n.655-8del
NM_001128147.2:c.655-8del NP_001121619.1:n.655-8del
XM_005257983.1:c.655-8del XP_005258040.1:n.655-8del
XM_005257984.1:c.655-8del XP_005258041.1:n.655-8del
XM_006721922.1:c.655-8del XP_006721985.1:n.655-8del
XM_006721923.2:c.616-8del XP_006721986.1:n.616-8del
XM_006721924.1:c.655-8del XP_006721987.1:n.655-8del
XM_006721925.1:c.655-8del XP_006721988.1:n.655-8del
XM_006721926.2:c.655-8del XP_006721989.1:n.655-8del
XM_006721927.1:c.655-8del XP_006721990.1:n.655-8del
XM_006721928.2:c.655-8del XP_006721991.1:n.655-8del
XM_011524852.1:c.655-8del XP_011523154.1:n.655-8del
XM_011524853.1:c.616-8del XP_011523155.1:n.616-8del
XM_011524854.1:c.616-8del XP_011523156.1:n.616-8del
XM_011524855.1:c.616-8del XP_011523157.1:n.616-8del
XM_011524856.1:c.616-8del XP_011523158.1:n.616-8del
XM_011524857.1:c.655-8del XP_011523159.1:n.655-8del
NM_001042492.3:c.655-8del MANE Select NP_001035957.1:n.655-8del
NM_001128147.3:c.655-8del NP_001121619.1:n.655-8del