Canonical Allele Identifier: CA2695225705

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260498dup , CM000679.2:g.31260498dup	GRCh38
NC_000017.10:g.29587516dup , CM000679.1:g.29587516dup	GRCh37
NC_000017.9:g.26611642dup	NCBI36
NG_009018.1:g.170522dup , LRG_214:g.170522dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.348dup	ENSP00000492721.2:p.Tyr117ValfsTer?
ENST00000696138.1:c.4542dup	ENSP00000512431.1:p.Tyr1515ValfsTer9
ENST00000696140.1:n.666dup
ENST00000696141.1:c.551dup
ENST00000687863.1:n.1205dup
ENST00000691014.1:c.4590dup	ENSP00000510595.1:p.Tyr1531ValfsTer9
ENST00000691649.1:n.1771dup
ENST00000358273.9:c.4560dup MANE Select	ENSP00000351015.4:p.Tyr1521ValfsTer9
ENST00000356175.7:c.4497dup	ENSP00000348498.3:p.Tyr1500ValfsTer9
ENST00000358273.8:c.4560dup	ENSP00000351015.4:p.Tyr1521ValfsTer9
ENST00000456735.6:c.3495dup	ENSP00000389907.2:p.Tyr1166ValfsTer9
ENST00000466819.5:c.1076dup
ENST00000479614.1:c.1013dup
ENST00000493220.5:n.3033dup
ENST00000579081.5:c.4599dup	ENSP00000462408.1:p.Tyr1534ValfsTer9
NM_000267.3:c.4497dup , LRG_214t1:c.4497dup	NP_000258.1:p.Tyr1500ValfsTer9
NM_001042492.2:c.4560dup , LRG_214t2:c.4560dup	NP_001035957.1:p.Tyr1521ValfsTer9
XM_005257983.1:c.4560dup	XP_005258040.1:p.Tyr1521ValfsTer9
XM_005257984.1:c.4497dup	XP_005258041.1:p.Tyr1500ValfsTer9
XM_006721922.1:c.4590dup	XP_006721985.1:p.Tyr1531ValfsTer9
XM_006721923.2:c.4551dup	XP_006721986.1:p.Tyr1518ValfsTer9
XM_006721924.1:c.4590dup	XP_006721987.1:p.Tyr1531ValfsTer9
XM_006721925.1:c.4527dup	XP_006721988.1:p.Tyr1510ValfsTer9
XM_006721926.2:c.4590dup	XP_006721989.1:p.Tyr1531ValfsTer9
XM_006721927.1:c.4590dup	XP_006721990.1:p.Tyr1531ValfsTer9
XM_006721928.2:c.4590dup	XP_006721991.1:p.Tyr1531ValfsTer9
XM_011524852.1:c.4587dup	XP_011523154.1:p.Tyr1530ValfsTer9
XM_011524853.1:c.4551dup	XP_011523155.1:p.Tyr1518ValfsTer9
XM_011524854.1:c.4551dup	XP_011523156.1:p.Tyr1518ValfsTer9
XM_011524855.1:c.4551dup	XP_011523157.1:p.Tyr1518ValfsTer9
XM_011524856.1:c.4551dup	XP_011523158.1:p.Tyr1518ValfsTer9
XM_011524857.1:c.4590dup	XP_011523159.1:p.Tyr1531ValfsTer9
NM_001042492.3:c.4560dup MANE Select	NP_001035957.1:p.Tyr1521ValfsTer9