Canonical Allele Identifier: CA2255578974

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265285_31265286delinsAC , CM000679.2:g.31265285_31265286delinsAC	GRCh38
NC_000017.10:g.29592303_29592304delinsAC , CM000679.1:g.29592303_29592304delinsAC	GRCh37
NC_000017.9:g.26616429_26616430delinsAC	NCBI36
NG_009018.1:g.175309_175310delinsAC , LRG_214:g.175309_175310delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.583_584delinsAC	ENSP00000492721.2:n.583_584delinsAC
ENST00000696138.1:c.4763_4764delinsAC	ENSP00000512431.1:p.Tyr1588=
ENST00000696140.1:n.887_888delinsAC
ENST00000696141.1:c.772_773delinsAC
ENST00000687863.1:n.1426_1427delinsAC
ENST00000691014.1:c.4811_4812delinsAC	ENSP00000510595.1:p.Tyr1604=
ENST00000358273.9:c.4781_4782delinsAC MANE Select	ENSP00000351015.4:p.Tyr1594=
ENST00000356175.7:c.4718_4719delinsAC	ENSP00000348498.3:p.Tyr1573=
ENST00000358273.8:c.4781_4782delinsAC	ENSP00000351015.4:p.Tyr1594=
ENST00000456735.6:c.3716_3717delinsAC	ENSP00000389907.2:p.Tyr1239=
ENST00000493220.5:n.3254_3255delinsAC
ENST00000579081.5:c.4820_4821delinsAC	ENSP00000462408.1:p.Tyr1607=
NM_000267.3:c.4718_4719delinsAC , LRG_214t1:c.4718_4719delinsAC	NP_000258.1:p.Tyr1573=
NM_001042492.2:c.4781_4782delinsAC , LRG_214t2:c.4781_4782delinsAC	NP_001035957.1:p.Tyr1594=
XM_005257983.1:c.4781_4782delinsAC	XP_005258040.1:p.Tyr1594=
XM_005257984.1:c.4718_4719delinsAC	XP_005258041.1:p.Tyr1573=
XM_006721922.1:c.4811_4812delinsAC	XP_006721985.1:p.Tyr1604=
XM_006721923.2:c.4772_4773delinsAC	XP_006721986.1:p.Tyr1591=
XM_006721924.1:c.4811_4812delinsAC	XP_006721987.1:p.Tyr1604=
XM_006721925.1:c.4748_4749delinsAC	XP_006721988.1:p.Tyr1583=
XM_006721926.2:c.4811_4812delinsAC	XP_006721989.1:p.Tyr1604=
XM_006721927.1:c.4811_4812delinsAC	XP_006721990.1:p.Tyr1604=
XM_006721928.2:c.4811_4812delinsAC	XP_006721991.1:p.Tyr1604=
XM_011524852.1:c.4808_4809delinsAC	XP_011523154.1:p.Tyr1603=
XM_011524853.1:c.4772_4773delinsAC	XP_011523155.1:p.Tyr1591=
XM_011524854.1:c.4772_4773delinsAC	XP_011523156.1:p.Tyr1591=
XM_011524855.1:c.4772_4773delinsAC	XP_011523157.1:p.Tyr1591=
XM_011524856.1:c.4772_4773delinsAC	XP_011523158.1:p.Tyr1591=
XM_011524857.1:c.4811_4812delinsAC	XP_011523159.1:p.Tyr1604=
NM_001042492.3:c.4781_4782delinsAC MANE Select	NP_001035957.1:p.Tyr1594=