Canonical Allele Identifier: CA2255619427
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31334592_31334600delinsCTAAAATGG , CM000679.2:g.31334592_31334600delinsCTAAAATGG GRCh38
NC_000017.10:g.29661610_29661618delinsCTAAAATGG , CM000679.1:g.29661610_29661618delinsCTAAAATGG GRCh37
NC_000017.9:g.26685736_26685744delinsCTAAAATGG NCBI36
NG_009018.1:g.244616_244624delinsCTAAAATGG , LRG_214:g.244616_244624delinsCTAAAATGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.2001-246_2001-238delinsCTAAAATGG ENSP00000492721.2:n.2001-246_2001-238delinsCTAAAATGG
ENST00000696138.1:c.5795-246_5795-238delinsCTAAAATGG ENSP00000512431.1:n.5795-246_5795-238delinsCTAAAATGG
ENST00000684826.1:c.377-246_377-238delinsCTAAAATGG ENSP00000509994.1:n.377-246_377-238delinsCTAAAATGG
ENST00000687027.1:c.-32-246_-32-238delinsCTAAAATGG ENSP00000508715.1:n.-32-246_-32-238delinsCTAAAATGG
ENST00000687863.1:n.2458-246_2458-238delinsCTAAAATGG
ENST00000691014.1:c.5843-246_5843-238delinsCTAAAATGG ENSP00000510595.1:n.5843-246_5843-238delinsCTAAAATGG
ENST00000693617.1:c.377-246_377-238delinsCTAAAATGG ENSP00000510031.1:n.377-246_377-238delinsCTAAAATGG
ENST00000358273.9:c.5813-246_5813-238delinsCTAAAATGG MANE Select ENSP00000351015.4:n.5813-246_5813-238delinsCTAAAATGG
ENST00000356175.7:c.5750-246_5750-238delinsCTAAAATGG ENSP00000348498.3:n.5750-246_5750-238delinsCTAAAATGG
ENST00000358273.8:c.5813-246_5813-238delinsCTAAAATGG ENSP00000351015.4:n.5813-246_5813-238delinsCTAAAATGG
ENST00000456735.6:c.4748-246_4748-238delinsCTAAAATGG ENSP00000389907.2:n.4748-246_4748-238delinsCTAAAATGG
ENST00000479536.2:c.171-72_171-64delinsCTAAAATGG
ENST00000579081.5:c.5949-246_5949-238delinsCTAAAATGG ENSP00000462408.1:n.5949-246_5949-238delinsCTAAAATGG
ENST00000581113.6:n.1130-246_1130-238delinsCTAAAATGG
NM_000267.3:c.5750-246_5750-238delinsCTAAAATGG , LRG_214t1:c.5750-246_5750-238delinsCTAAAATGG NP_000258.1:n.5750-246_5750-238delinsCTAAAATGG
NM_001042492.2:c.5813-246_5813-238delinsCTAAAATGG , LRG_214t2:c.5813-246_5813-238delinsCTAAAATGG NP_001035957.1:n.5813-246_5813-238delinsCTAAAATGG
XM_005257983.1:c.5813-246_5813-238delinsCTAAAATGG XP_005258040.1:n.5813-246_5813-238delinsCTAAAATGG
XM_005257984.1:c.5750-246_5750-238delinsCTAAAATGG XP_005258041.1:n.5750-246_5750-238delinsCTAAAATGG
XM_006721922.1:c.5843-246_5843-238delinsCTAAAATGG XP_006721985.1:n.5843-246_5843-238delinsCTAAAATGG
XM_006721923.2:c.5804-246_5804-238delinsCTAAAATGG XP_006721986.1:n.5804-246_5804-238delinsCTAAAATGG
XM_006721924.1:c.5843-246_5843-238delinsCTAAAATGG XP_006721987.1:n.5843-246_5843-238delinsCTAAAATGG
XM_006721925.1:c.5780-246_5780-238delinsCTAAAATGG XP_006721988.1:n.5780-246_5780-238delinsCTAAAATGG
XM_006721926.2:c.5843-246_5843-238delinsCTAAAATGG XP_006721989.1:n.5843-246_5843-238delinsCTAAAATGG
XM_006721927.1:c.5843-246_5843-238delinsCTAAAATGG XP_006721990.1:n.5843-246_5843-238delinsCTAAAATGG
XM_011524852.1:c.5840-246_5840-238delinsCTAAAATGG XP_011523154.1:n.5840-246_5840-238delinsCTAAAATGG
XM_011524853.1:c.5804-246_5804-238delinsCTAAAATGG XP_011523155.1:n.5804-246_5804-238delinsCTAAAATGG
XM_011524854.1:c.5804-246_5804-238delinsCTAAAATGG XP_011523156.1:n.5804-246_5804-238delinsCTAAAATGG
XM_011524855.1:c.5804-246_5804-238delinsCTAAAATGG XP_011523157.1:n.5804-246_5804-238delinsCTAAAATGG
XM_011524856.1:c.5804-246_5804-238delinsCTAAAATGG XP_011523158.1:n.5804-246_5804-238delinsCTAAAATGG
XM_011524857.1:c.5843-246_5843-238delinsCTAAAATGG XP_011523159.1:n.5843-246_5843-238delinsCTAAAATGG
NM_001042492.3:c.5813-246_5813-238delinsCTAAAATGG MANE Select NP_001035957.1:n.5813-246_5813-238delinsCTAAAATGG