Canonical Allele Identifier: CA2695225429

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265333_31265336del , CM000679.2:g.31265333_31265336del	GRCh38
NC_000017.10:g.29592351_29592354del , CM000679.1:g.29592351_29592354del	GRCh37
NC_000017.9:g.26616477_26616480del	NCBI36
NG_009018.1:g.175357_175360del , LRG_214:g.175357_175360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.631_634del	ENSP00000492721.2:n.631_634del
ENST00000696138.1:c.4811_4814del	ENSP00000512431.1:p.Ala1604GlyfsTer13
ENST00000696140.1:n.935_938del
ENST00000696141.1:c.820_823del
ENST00000687863.1:n.1474_1477del
ENST00000691014.1:c.4859_4862del	ENSP00000510595.1:p.Ala1620GlyfsTer13
ENST00000358273.9:c.4829_4832del MANE Select	ENSP00000351015.4:p.Ala1610GlyfsTer13
ENST00000356175.7:c.4766_4769del	ENSP00000348498.3:p.Ala1589GlyfsTer13
ENST00000358273.8:c.4829_4832del	ENSP00000351015.4:p.Ala1610GlyfsTer13
ENST00000456735.6:c.3764_3767del	ENSP00000389907.2:p.Ala1255GlyfsTer13
ENST00000493220.5:n.3302_3305del
ENST00000579081.5:c.4868_4871del	ENSP00000462408.1:p.Ala1623GlyfsTer9
NM_000267.3:c.4766_4769del , LRG_214t1:c.4766_4769del	NP_000258.1:p.Ala1589GlyfsTer13
NM_001042492.2:c.4829_4832del , LRG_214t2:c.4829_4832del	NP_001035957.1:p.Ala1610GlyfsTer13
XM_005257983.1:c.4829_4832del	XP_005258040.1:p.Ala1610GlyfsTer13
XM_005257984.1:c.4766_4769del	XP_005258041.1:p.Ala1589GlyfsTer13
XM_006721922.1:c.4859_4862del	XP_006721985.1:p.Ala1620GlyfsTer13
XM_006721923.2:c.4820_4823del	XP_006721986.1:p.Ala1607GlyfsTer13
XM_006721924.1:c.4859_4862del	XP_006721987.1:p.Ala1620GlyfsTer13
XM_006721925.1:c.4796_4799del	XP_006721988.1:p.Ala1599GlyfsTer13
XM_006721926.2:c.4859_4862del	XP_006721989.1:p.Ala1620GlyfsTer13
XM_006721927.1:c.4859_4862del	XP_006721990.1:p.Ala1620GlyfsTer13
XM_006721928.2:c.4859_4862del	XP_006721991.1:p.Ala1620GlyfsTer?
XM_011524852.1:c.4856_4859del	XP_011523154.1:p.Ala1619GlyfsTer13
XM_011524853.1:c.4820_4823del	XP_011523155.1:p.Ala1607GlyfsTer13
XM_011524854.1:c.4820_4823del	XP_011523156.1:p.Ala1607GlyfsTer13
XM_011524855.1:c.4820_4823del	XP_011523157.1:p.Ala1607GlyfsTer13
XM_011524856.1:c.4820_4823del	XP_011523158.1:p.Ala1607GlyfsTer13
XM_011524857.1:c.4859_4862del	XP_011523159.1:p.Ala1620GlyfsTer13
NM_001042492.3:c.4829_4832del MANE Select	NP_001035957.1:p.Ala1610GlyfsTer13