Canonical Allele Identifier: CA2255619431
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31334598T= , CM000679.2:g.31334598T= GRCh38
NC_000017.10:g.29661616T= , CM000679.1:g.29661616T= GRCh37
NC_000017.9:g.26685742T= NCBI36
NG_009018.1:g.244622T= , LRG_214:g.244622T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.2001-240T= ENSP00000492721.2:n.2001-240T=
ENST00000696138.1:c.5795-240T= ENSP00000512431.1:n.5795-240T=
ENST00000684826.1:c.377-240T= ENSP00000509994.1:n.377-240T=
ENST00000687027.1:c.-32-240T= ENSP00000508715.1:n.-32-240T=
ENST00000687863.1:n.2458-240T=
ENST00000691014.1:c.5843-240T= ENSP00000510595.1:n.5843-240T=
ENST00000693617.1:c.377-240T= ENSP00000510031.1:n.377-240T=
ENST00000358273.9:c.5813-240T= MANE Select ENSP00000351015.4:n.5813-240T=
ENST00000356175.7:c.5750-240T= ENSP00000348498.3:n.5750-240T=
ENST00000358273.8:c.5813-240T= ENSP00000351015.4:n.5813-240T=
ENST00000456735.6:c.4748-240T= ENSP00000389907.2:n.4748-240T=
ENST00000479536.2:c.171-66T=
ENST00000579081.5:c.5949-240T= ENSP00000462408.1:n.5949-240T=
ENST00000581113.6:n.1130-240T=
NM_000267.3:c.5750-240T= , LRG_214t1:c.5750-240T= NP_000258.1:n.5750-240T=
NM_001042492.2:c.5813-240T= , LRG_214t2:c.5813-240T= NP_001035957.1:n.5813-240T=
XM_005257983.1:c.5813-240T= XP_005258040.1:n.5813-240T=
XM_005257984.1:c.5750-240T= XP_005258041.1:n.5750-240T=
XM_006721922.1:c.5843-240T= XP_006721985.1:n.5843-240T=
XM_006721923.2:c.5804-240T= XP_006721986.1:n.5804-240T=
XM_006721924.1:c.5843-240T= XP_006721987.1:n.5843-240T=
XM_006721925.1:c.5780-240T= XP_006721988.1:n.5780-240T=
XM_006721926.2:c.5843-240T= XP_006721989.1:n.5843-240T=
XM_006721927.1:c.5843-240T= XP_006721990.1:n.5843-240T=
XM_011524852.1:c.5840-240T= XP_011523154.1:n.5840-240T=
XM_011524853.1:c.5804-240T= XP_011523155.1:n.5804-240T=
XM_011524854.1:c.5804-240T= XP_011523156.1:n.5804-240T=
XM_011524855.1:c.5804-240T= XP_011523157.1:n.5804-240T=
XM_011524856.1:c.5804-240T= XP_011523158.1:n.5804-240T=
XM_011524857.1:c.5843-240T= XP_011523159.1:n.5843-240T=
NM_001042492.3:c.5813-240T= MANE Select NP_001035957.1:n.5813-240T=