Canonical Allele Identifier: CA2695225757

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31248990dup , CM000679.2:g.31248990dup	GRCh38
NC_000017.10:g.29576008dup , CM000679.1:g.29576008dup	GRCh37
NC_000017.9:g.26600134dup	NCBI36
NG_009018.1:g.159014dup , LRG_214:g.159014dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4026dup	ENSP00000512431.1:p.Pro1343ThrfsTer6
ENST00000696139.1:c.1444dup	ENSP00000512432.1:n.1444dup
ENST00000696140.1:n.87dup
ENST00000687863.1:n.689dup
ENST00000691014.1:c.4011dup	ENSP00000510595.1:p.Pro1338ThrfsTer6
ENST00000358273.9:c.3981dup MANE Select	ENSP00000351015.4:p.Pro1328ThrfsTer6
ENST00000356175.7:c.3981dup	ENSP00000348498.3:p.Pro1328ThrfsTer6
ENST00000358273.8:c.3981dup	ENSP00000351015.4:p.Pro1328ThrfsTer6
ENST00000456735.6:c.2979dup	ENSP00000389907.2:p.Pro994ThrfsTer6
ENST00000466819.5:c.457dup
ENST00000479614.1:c.457dup
ENST00000493220.5:n.2517dup
ENST00000495910.6:c.3756dup
ENST00000579081.5:c.4083dup	ENSP00000462408.1:p.Pro1362ThrfsTer6
NM_000267.3:c.3981dup , LRG_214t1:c.3981dup	NP_000258.1:p.Pro1328ThrfsTer6
NM_001042492.2:c.3981dup , LRG_214t2:c.3981dup	NP_001035957.1:p.Pro1328ThrfsTer6
XM_005257983.1:c.3981dup	XP_005258040.1:p.Pro1328ThrfsTer6
XM_005257984.1:c.3981dup	XP_005258041.1:p.Pro1328ThrfsTer6
XM_006721922.1:c.4011dup	XP_006721985.1:p.Pro1338ThrfsTer6
XM_006721923.2:c.3972dup	XP_006721986.1:p.Pro1325ThrfsTer6
XM_006721924.1:c.4011dup	XP_006721987.1:p.Pro1338ThrfsTer6
XM_006721925.1:c.4011dup	XP_006721988.1:p.Pro1338ThrfsTer6
XM_006721926.2:c.4011dup	XP_006721989.1:p.Pro1338ThrfsTer6
XM_006721927.1:c.4011dup	XP_006721990.1:p.Pro1338ThrfsTer6
XM_006721928.2:c.4011dup	XP_006721991.1:p.Pro1338ThrfsTer6
XM_011524852.1:c.4008dup	XP_011523154.1:p.Pro1337ThrfsTer6
XM_011524853.1:c.3972dup	XP_011523155.1:p.Pro1325ThrfsTer6
XM_011524854.1:c.3972dup	XP_011523156.1:p.Pro1325ThrfsTer6
XM_011524855.1:c.3972dup	XP_011523157.1:p.Pro1325ThrfsTer6
XM_011524856.1:c.3972dup	XP_011523158.1:p.Pro1325ThrfsTer6
XM_011524857.1:c.4011dup	XP_011523159.1:p.Pro1338ThrfsTer6
NM_001042492.3:c.3981dup MANE Select	NP_001035957.1:p.Pro1328ThrfsTer6