Canonical Allele Identifier: CA2695225425

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265285_31265286dup , CM000679.2:g.31265285_31265286dup	GRCh38
NC_000017.10:g.29592303_29592304dup , CM000679.1:g.29592303_29592304dup	GRCh37
NC_000017.9:g.26616429_26616430dup	NCBI36
NG_009018.1:g.175309_175310dup , LRG_214:g.175309_175310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.583_584dup	ENSP00000492721.2:n.583_584dup
ENST00000696138.1:c.4763_4764dup	ENSP00000512431.1:p.Gln1589ThrfsTer30
ENST00000696140.1:n.887_888dup
ENST00000696141.1:c.772_773dup
ENST00000687863.1:n.1426_1427dup
ENST00000691014.1:c.4811_4812dup	ENSP00000510595.1:p.Gln1605ThrfsTer30
ENST00000358273.9:c.4781_4782dup MANE Select	ENSP00000351015.4:p.Gln1595ThrfsTer30
ENST00000356175.7:c.4718_4719dup	ENSP00000348498.3:p.Gln1574ThrfsTer30
ENST00000358273.8:c.4781_4782dup	ENSP00000351015.4:p.Gln1595ThrfsTer30
ENST00000456735.6:c.3716_3717dup	ENSP00000389907.2:p.Gln1240ThrfsTer30
ENST00000493220.5:n.3254_3255dup
ENST00000579081.5:c.4820_4821dup	ENSP00000462408.1:p.Gln1608ThrfsTer26
NM_000267.3:c.4718_4719dup , LRG_214t1:c.4718_4719dup	NP_000258.1:p.Gln1574ThrfsTer30
NM_001042492.2:c.4781_4782dup , LRG_214t2:c.4781_4782dup	NP_001035957.1:p.Gln1595ThrfsTer30
XM_005257983.1:c.4781_4782dup	XP_005258040.1:p.Gln1595ThrfsTer30
XM_005257984.1:c.4718_4719dup	XP_005258041.1:p.Gln1574ThrfsTer30
XM_006721922.1:c.4811_4812dup	XP_006721985.1:p.Gln1605ThrfsTer30
XM_006721923.2:c.4772_4773dup	XP_006721986.1:p.Gln1592ThrfsTer30
XM_006721924.1:c.4811_4812dup	XP_006721987.1:p.Gln1605ThrfsTer30
XM_006721925.1:c.4748_4749dup	XP_006721988.1:p.Gln1584ThrfsTer30
XM_006721926.2:c.4811_4812dup	XP_006721989.1:p.Gln1605ThrfsTer30
XM_006721927.1:c.4811_4812dup	XP_006721990.1:p.Gln1605ThrfsTer30
XM_006721928.2:c.4811_4812dup	XP_006721991.1:p.Gln1605ThrfsTer?
XM_011524852.1:c.4808_4809dup	XP_011523154.1:p.Gln1604ThrfsTer30
XM_011524853.1:c.4772_4773dup	XP_011523155.1:p.Gln1592ThrfsTer30
XM_011524854.1:c.4772_4773dup	XP_011523156.1:p.Gln1592ThrfsTer30
XM_011524855.1:c.4772_4773dup	XP_011523157.1:p.Gln1592ThrfsTer30
XM_011524856.1:c.4772_4773dup	XP_011523158.1:p.Gln1592ThrfsTer30
XM_011524857.1:c.4811_4812dup	XP_011523159.1:p.Gln1605ThrfsTer30
NM_001042492.3:c.4781_4782dup MANE Select	NP_001035957.1:p.Gln1595ThrfsTer30