Canonical Allele Identifier: CA2695224813
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31229956dup , CM000679.2:g.31229956dup GRCh38
NC_000017.10:g.29556974dup , CM000679.1:g.29556974dup GRCh37
NC_000017.9:g.26581100dup NCBI36
NG_009018.1:g.139980dup , LRG_214:g.139980dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.3017dup ENSP00000512431.1:p.Met1006IlefsTer30
ENST00000696139.1:c.317dup ENSP00000512432.1:p.Met106IlefsTer30
ENST00000691014.1:c.3002dup ENSP00000510595.1:p.Met1001IlefsTer30
ENST00000358273.9:c.2972dup MANE Select ENSP00000351015.4:p.Met991IlefsTer30
ENST00000356175.7:c.2972dup ENSP00000348498.3:p.Met991IlefsTer30
ENST00000358273.8:c.2972dup ENSP00000351015.4:p.Met991IlefsTer30
ENST00000456735.6:c.1970dup ENSP00000389907.2:p.Met657IlefsTer30
ENST00000493220.5:n.1508dup
ENST00000495910.6:c.2747dup
ENST00000579081.5:c.3074dup ENSP00000462408.1:p.Met1025IlefsTer30
NM_000267.3:c.2972dup , LRG_214t1:c.2972dup NP_000258.1:p.Met991IlefsTer30
NM_001042492.2:c.2972dup , LRG_214t2:c.2972dup NP_001035957.1:p.Met991IlefsTer30
XM_005257983.1:c.2972dup XP_005258040.1:p.Met991IlefsTer30
XM_005257984.1:c.2972dup XP_005258041.1:p.Met991IlefsTer30
XM_006721922.1:c.3002dup XP_006721985.1:p.Met1001IlefsTer30
XM_006721923.2:c.2963dup XP_006721986.1:p.Met988IlefsTer30
XM_006721924.1:c.3002dup XP_006721987.1:p.Met1001IlefsTer30
XM_006721925.1:c.3002dup XP_006721988.1:p.Met1001IlefsTer30
XM_006721926.2:c.3002dup XP_006721989.1:p.Met1001IlefsTer30
XM_006721927.1:c.3002dup XP_006721990.1:p.Met1001IlefsTer30
XM_006721928.2:c.3002dup XP_006721991.1:p.Met1001IlefsTer30
XM_011524852.1:c.2999dup XP_011523154.1:p.Met1000IlefsTer30
XM_011524853.1:c.2963dup XP_011523155.1:p.Met988IlefsTer30
XM_011524854.1:c.2963dup XP_011523156.1:p.Met988IlefsTer30
XM_011524855.1:c.2963dup XP_011523157.1:p.Met988IlefsTer30
XM_011524856.1:c.2963dup XP_011523158.1:p.Met988IlefsTer30
XM_011524857.1:c.3002dup XP_011523159.1:p.Met1001IlefsTer30
NM_001042492.3:c.2972dup MANE Select NP_001035957.1:p.Met991IlefsTer30