Canonical Allele Identifier: CA2255577362
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261680_31261681delinsAT , CM000679.2:g.31261680_31261681delinsAT GRCh38
NC_000017.10:g.29588698_29588699delinsAT , CM000679.1:g.29588698_29588699delinsAT GRCh37
NC_000017.9:g.26612824_26612825delinsAT NCBI36
NG_009018.1:g.171704_171705delinsAT , LRG_214:g.171704_171705delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.366-17_366-16delinsAT ENSP00000492721.2:n.366-17_366-16delinsAT
ENST00000696138.1:c.4560-31_4560-30delinsAT ENSP00000512431.1:n.4560-31_4560-30delinsAT
ENST00000696140.1:n.684-31_684-30delinsAT
ENST00000696141.1:c.569-31_569-30delinsAT
ENST00000687863.1:n.1223-31_1223-30delinsAT
ENST00000691014.1:c.4608-31_4608-30delinsAT ENSP00000510595.1:n.4608-31_4608-30delinsAT
ENST00000358273.9:c.4578-31_4578-30delinsAT MANE Select ENSP00000351015.4:n.4578-31_4578-30delinsAT
ENST00000356175.7:c.4515-31_4515-30delinsAT ENSP00000348498.3:n.4515-31_4515-30delinsAT
ENST00000358273.8:c.4578-31_4578-30delinsAT ENSP00000351015.4:n.4578-31_4578-30delinsAT
ENST00000456735.6:c.3513-31_3513-30delinsAT ENSP00000389907.2:n.3513-31_3513-30delinsAT
ENST00000466819.5:c.1094-31_1094-30delinsAT
ENST00000479614.1:c.1031-31_1031-30delinsAT
ENST00000493220.5:n.3051-31_3051-30delinsAT
ENST00000579081.5:c.4617-31_4617-30delinsAT ENSP00000462408.1:n.4617-31_4617-30delinsAT
NM_000267.3:c.4515-31_4515-30delinsAT , LRG_214t1:c.4515-31_4515-30delinsAT NP_000258.1:n.4515-31_4515-30delinsAT
NM_001042492.2:c.4578-31_4578-30delinsAT , LRG_214t2:c.4578-31_4578-30delinsAT NP_001035957.1:n.4578-31_4578-30delinsAT
XM_005257983.1:c.4578-31_4578-30delinsAT XP_005258040.1:n.4578-31_4578-30delinsAT
XM_005257984.1:c.4515-31_4515-30delinsAT XP_005258041.1:n.4515-31_4515-30delinsAT
XM_006721922.1:c.4608-31_4608-30delinsAT XP_006721985.1:n.4608-31_4608-30delinsAT
XM_006721923.2:c.4569-31_4569-30delinsAT XP_006721986.1:n.4569-31_4569-30delinsAT
XM_006721924.1:c.4608-31_4608-30delinsAT XP_006721987.1:n.4608-31_4608-30delinsAT
XM_006721925.1:c.4545-31_4545-30delinsAT XP_006721988.1:n.4545-31_4545-30delinsAT
XM_006721926.2:c.4608-31_4608-30delinsAT XP_006721989.1:n.4608-31_4608-30delinsAT
XM_006721927.1:c.4608-31_4608-30delinsAT XP_006721990.1:n.4608-31_4608-30delinsAT
XM_006721928.2:c.4608-31_4608-30delinsAT XP_006721991.1:n.4608-31_4608-30delinsAT
XM_011524852.1:c.4605-31_4605-30delinsAT XP_011523154.1:n.4605-31_4605-30delinsAT
XM_011524853.1:c.4569-31_4569-30delinsAT XP_011523155.1:n.4569-31_4569-30delinsAT
XM_011524854.1:c.4569-31_4569-30delinsAT XP_011523156.1:n.4569-31_4569-30delinsAT
XM_011524855.1:c.4569-31_4569-30delinsAT XP_011523157.1:n.4569-31_4569-30delinsAT
XM_011524856.1:c.4569-31_4569-30delinsAT XP_011523158.1:n.4569-31_4569-30delinsAT
XM_011524857.1:c.4608-31_4608-30delinsAT XP_011523159.1:n.4608-31_4608-30delinsAT
NM_001042492.3:c.4578-31_4578-30delinsAT MANE Select NP_001035957.1:n.4578-31_4578-30delinsAT