Canonical Allele Identifier: CA289338328
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs34500657

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31233206dup , CM000679.2:g.31233206dup GRCh38
NC_000017.10:g.29560224dup , CM000679.1:g.29560224dup GRCh37
NC_000017.9:g.26584350dup NCBI36
NG_009018.1:g.143230dup , LRG_214:g.143230dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.3746dup ENSP00000512431.1:p.Gln1250SerfsTer4
ENST00000696139.1:c.1046dup ENSP00000512432.1:p.Gln350SerfsTer4
ENST00000691014.1:c.3731dup ENSP00000510595.1:p.Gln1245SerfsTer4
ENST00000693210.1:n.427dup
ENST00000358273.9:c.3701dup MANE Select ENSP00000351015.4:p.Gln1235SerfsTer4
ENST00000356175.7:c.3701dup ENSP00000348498.3:p.Gln1235SerfsTer4
ENST00000358273.8:c.3701dup ENSP00000351015.4:p.Gln1235SerfsTer4
ENST00000456735.6:c.2699dup ENSP00000389907.2:p.Gln901SerfsTer4
ENST00000466819.5:c.177dup
ENST00000479614.1:c.177dup
ENST00000493220.5:n.2237dup
ENST00000495910.6:c.3476dup
ENST00000579081.5:c.3803dup ENSP00000462408.1:p.Gln1269SerfsTer4
NM_000267.3:c.3701dup , LRG_214t1:c.3701dup NP_000258.1:p.Gln1235SerfsTer4
NM_001042492.2:c.3701dup , LRG_214t2:c.3701dup NP_001035957.1:p.Gln1235SerfsTer4
XM_005257983.1:c.3701dup XP_005258040.1:p.Gln1235SerfsTer4
XM_005257984.1:c.3701dup XP_005258041.1:p.Gln1235SerfsTer4
XM_006721922.1:c.3731dup XP_006721985.1:p.Gln1245SerfsTer4
XM_006721923.2:c.3692dup XP_006721986.1:p.Gln1232SerfsTer4
XM_006721924.1:c.3731dup XP_006721987.1:p.Gln1245SerfsTer4
XM_006721925.1:c.3731dup XP_006721988.1:p.Gln1245SerfsTer4
XM_006721926.2:c.3731dup XP_006721989.1:p.Gln1245SerfsTer4
XM_006721927.1:c.3731dup XP_006721990.1:p.Gln1245SerfsTer4
XM_006721928.2:c.3731dup XP_006721991.1:p.Gln1245SerfsTer4
XM_011524852.1:c.3728dup XP_011523154.1:p.Gln1244SerfsTer4
XM_011524853.1:c.3692dup XP_011523155.1:p.Gln1232SerfsTer4
XM_011524854.1:c.3692dup XP_011523156.1:p.Gln1232SerfsTer4
XM_011524855.1:c.3692dup XP_011523157.1:p.Gln1232SerfsTer4
XM_011524856.1:c.3692dup XP_011523158.1:p.Gln1232SerfsTer4
XM_011524857.1:c.3731dup XP_011523159.1:p.Gln1245SerfsTer4
NM_001042492.3:c.3701dup MANE Select NP_001035957.1:p.Gln1235SerfsTer4